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LOVD-USHBases

LOVD - Variant listings for GPR98

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Intron 01i c.22+56C>T r.(=) p.(=) - Heterozygous Neutral rs7706392 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +AcuI;+AfeI;-Mnl;- DdeI;-BbvCI;-Bpu10I; GPR98_00115
Intron 01i c.22+62A>G r.(=) p.(=) - Heterozygous UV1 rs41311623 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +HgaI;-SfaNI; GPR98_00070
Exon 03 c.327C>T r.(?) p.(=) Calx-beta 1 (77-116) Heterozygous Neutral rs61753944 Le Quesne Stabej et al., 2012 UV1 2/838 controls - HSF none GPR98_00061
Exon 03 c.335_336delTT r.(?) p.(Phe112Tyrfs*29) Calx-beta 1 (77-116) Heterozygous Pathogenic - described as 333_334delTT - Bonnet et al., 2011 Pathogenic - - HSF none GPR98_00018
Intron 03i c.358-216A>G
  (Reported 11 times)
r.(=) p.(=) - Heterozygous Neutral rs1673379 - - - - HSF +CviKI_1;-Tsp45I; GPR98_00184
Exon 04 c.380T>G
  (Reported 2 times)
r.(?) p.(Leu127Arg) - Heterozygous Neutral rs41311333 Le Quesne Stabej et al., 2012 UV1 2/90 controls USMA MSV3d HSF +HindIII;+AluI;+CviKI_1; GPR98_00090
Intron 04i c.454-80G>T r.(=) p.(=) - Heterozygous Neutral rs16868864 - - - - HSF +AluI;+CviKI_1; GPR98_00202
Intron 05i c.558+63A>G r.(=) p.(=) - Heterozygous UV2 - - - - - HSF +MnlI;-BsmAI;-HpyCH4III; GPR98_00213
Intron 05i c.558+103_558+123delinsCTCCAGG
  (Reported 5 times)
r.(=) p.(=) - Homozygous Neutral - Garcia-Garcia et al., 2013 Neutral - - HSF +ApeKI;+BanI;+BbvI;-BfuCI;-BspCNI;-BstAPI; GPR98_00248
Intron 06i c.672+56T>C r.(=) p.(=) - Heterozygous Neutral rs41311331 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +CviKI_1;-PflFI;-HpyCH4III;-Tth111I; GPR98_00071
Exon 07 c.929G>A r.(?) p.(Gly310Glu) - Heterozygous UV3 rs766790920 Jiang et al., 2015 mutation - USMA MSV3d HSF - GPR98_00294
Exon 08 c.1380delA r.(?) p.(Gln462Argfs*37) Calx-beta 4 (447-488) Heterozygous Pathogenic - described as c.1379delA - Yang et al., 2013 Mutation 0/400 controls - HSF - GPR98_00272
Exon 08 c.1477C>T r.(?) p.(Arg493*) - Heterozygous Pathogenic rs779948710 Bonnet et al., 2016 mutation - - HSF - GPR98_00513
Intron 08i c.1509+3A>G r.(?) p.(?) - Heterozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - GPR98_00514
Intron 08i c.1510-51C>A
  (Reported 23 times)
r.(=) p.(=) - Homozygous Neutral rs2366771 - - - - HSF -DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII; GPR98_00154
Exon 09 c.1563dupT r.(?) p.(Pro522Serfs*8) - Heterozygous Pathogenic - Bonnet et al., 2011 Pathogenic - - HSF none GPR98_00016
Exon 09 c.1608C>G
  (Reported 2 times)
r.(?) p.(Tyr536*) - Homozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - GPR98_00528
Exon 09 c.1701delC r.(?) p.(Leu568Cysfs*8) - Heterozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - GPR98_00533
Intron 09i c.1839+32G>A r.(=) p.(=) - Heterozygous Neutral rs77472411 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none GPR98_00069
Intron 09i c.1839+54C>T
  (Reported 7 times)
r.(=) p.(=) - Heterozygous Neutral rs56360530 - - - - HSF none GPR98_00209
Exon 10 c.1849G>A r.(?) p.(Val617Met) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 0/96 controls USMA MSV3d HSF -HpyCH4III GPR98_00045
Intron 10i c.2016+53delA
  (Reported 5 times)
r.(=) p.(=) - Heterozygous Neutral rs3838659 - - - - HSF -BsrGI GPR98_00185
Exon 11 c.2145_2149delGTTTT r.(?) p.(Leu715Phefs*6) Calx-beta 5 (706-745) Heterozygous - Pathogenic Aparisi et al., 2014 UV4 - - HSF - GPR98_00282
Exon 11 c.2185A>G
  (Reported 2 times)
r.(?) p.(Ile729Val) Calx-beta 5 (706-745) Heterozygous Neutral - Le Quesne Stabej et al., 2012 UV1 0/878 controls USMA MSV3d HSF +HpyCH4III GPR98_00075
Intron 11i c.2240+73delT
  (Reported 3 times)
r.(=) p.(=) - Homozygous Neutral - Garcia-Garcia et al., 2013 Neutral - - HSF none GPR98_00251
Intron 11i c.2241-30G>A r.(=) p.(=) - Heterozygous Neutral rs41304890 Le Quesne Stabej et al., 2012 Not Assessed 2/92 controls - HSF +BspMI;+BfuAI;-FauI;-AciI; GPR98_00078
Intron 11i c.2241-19G>T
  (Reported 7 times)
r.(=) p.(=) - Heterozygous Neutral rs1344030 - - - - HSF -BsmAI GPR98_00186
Exon 12 c.2258_2270del
  (Reported 3 times)
r.(?) p.(Gln753Leufs*8) - Heterozygous Pathogenic - Ebermann et al., 2009 - 0/50 controls - HSF +ScrFI;+BstNI;+PspGI;+StyD4I;+BssKI;-Hpy188III; GPR98_00008
Exon 12 c.2258_2270delAAGTGCTGAAATC r.(?) p.(Gln753Leufs*8) - Heterozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - GPR98_00008
Exon 12 c.2284C>T r.(?) p.(Arg762Cys) - Heterozygous Neutral rs41302842 Le Quesne Stabej et al., 2012 UV1 0/878 controls USMA MSV3d HSF +AluI;-BceAI; GPR98_00117
Intron 12i c.2367+8C>T
  (Reported 29 times)
r.(=) p.(=) - Homozygous Neutral rs2366773 - - - - HSF -CviQI;-RsaI; GPR98_00155
Exon 13 c.2398C>T r.(?) p.(Arg800*) - Heterozygous Pathogenic - Le Quesne Stabej et al., 2012 Pathogenic 1/876 controls - HSF +BclI;-BtsCI;-FokI;-BslI; GPR98_00101
Exon 13 c.2399G>A r.(?) p.(Arg800Gln) - Heterozygous UV3 - Yang et al., 2013 Mutation 0/400 controls USMA MSV3d HSF - GPR98_00275
Exon 13 c.2516T>C r.(?) p.(Val839Ala) Calx-beta 6 (821-861) Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 1/832 controls USMA MSV3d HSF +BcgI;-BclI; GPR98_00050
Intron 13i c.2553+11T>A r.(=) p.(=) - Heterozygous UV1 rs73181640 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF none GPR98_00079
Exon 14 c.2612delG r.(?) p.(Gly871Glufs*8) - Heterozygous Pathogenic - Aparisi et al., 2014 UV4 - - HSF - GPR98_00283
Exon 14 c.2727C>A r.(?) p.(=) - Heterozygous UV2 - Besnard, Garcia-Garcia et al., 2014 - - - HSF -SfcI GPR98_00263
Intron 14i c.2735-34C>G
  (Reported 7 times)
r.(=) p.(=) - Heterozygous Neutral rs16868901 - - - - HSF -BbsI;-MboII; GPR98_00187
Intron 14i c.2735-10C>A r.(=) p.(=) - Heterozygous UV1 rs78625945 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF +Tsp509I GPR98_00148
Exon 15 c.2834G>A r.(?) p.(Gly945Glu) Calx-beta 7 (938-979) Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 0/96 controls USMA MSV3d HSF +BsmAI;-BsmFI;-BslI;-EcoNI; GPR98_00039
Exon 15 c.2864C>A
  (Reported 4 times)
r.(?) p.(Ser955*) Calx-beta 7 (938-979) Homozygous Pathogenic - Besnard, Garcia-Garcia et al., 2014 - - - HSF +DraI;+MseI; GPR98_00267
Intron 15i c.2898+59delT
  (Reported 12 times)
r.(=) p.(=) - Heterozygous Neutral rs70999501 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none GPR98_00024
Intron 15i c.2898+85A>G
  (Reported 7 times)
r.(=) p.(=) - Heterozygous Neutral rs16868903 - - - - HSF none GPR98_00188
Intron 15i c.2899-42T>C
  (Reported 8 times)
r.(=) p.(=) - Homozygous Neutral rs2366776 - - - - HSF +HpyCH4IV;+BsaAI;+SnaBI; GPR98_00189
Exon 16 c.2984_2988del
  (Reported 2 times)
r.(?) p.(Leu995Hisfs*2) - Homozygous Pathogenic - Besnard et al., 2012 Pathogenic - - HSF -Hpy188I;-MnlI;-DdeI;-BspCNI; GPR98_00236
Intron 16i c.3022+8T>C r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF none GPR98_00053
Exon 17-77 c.3023-?_16611+?dup r.(?) p.(?) - Heterozygous Pathogenic RFC17-77 Bonnet et al., 2016 mutation - - - - GPR98_00521
Exon 17 c.3141A>G
  (Reported 7 times)
r.(?) p.(=) - Heterozygous Neutral rs950692 - - - - HSF -HpyCH4V GPR98_00190
Exon 17 c.3151G>T
  (Reported 2 times)
r.(?) p.(Asp1051Tyr) Calx-beta 8 (1051-1092) Heterozygous UV3 rs145556097 Neveling et al., 2012 unknown - USMA MSV3d HSF none GPR98_00241
Exon 17 c.3191A>C
  (Reported 2 times)
r.(?) p.(Glu1064Ala) Calx-beta 8 (1051-1092) Heterozygous UV1 rs190922596 Neveling et al., 2012 unknown - USMA MSV3d HSF +AciI;-MnlI; GPR98_00242
Exon 17 c.3255T>C r.(?) p.(=) Calx-beta 8 (1051-1092) Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 1/836 controls - HSF none GPR98_00087
Exon 17 c.3279G>T
  (Reported 28 times)
r.(?) p.(Leu1093Phe) - Homozygous Neutral rs2366777 - - - USMA MSV3d HSF +MseI;-Hpy188III;-EcoRI;-ApoI; GPR98_00156
Exon 17 c.3289G>A r.(?) p.(Gly1097Ser) - Heterozygous UV1 rs148097083 Le Quesne Stabej et al., 2012 UV1 1/872 controls USMA MSV3d HSF none GPR98_00093
Intron 17i c.3289+74A>G r.(=) p.(=) - Heterozygous Neutral rs16868917 - - - - HSF +Hpy188I GPR98_00233
Intron 17i c.3289+189_3289+194delinsGTATA
  (Reported 5 times)
r.(=) p.(=) - Heterozygous Neutral - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +Hpy166II;+BstZ17I;+AccI; GPR98_00118
Exon 19 c.3443G>A r.(?) p.(Gly1148Asp) - Heterozygous UV1 rs200945405 Aparisi et al., 2014 UV3 - USMA MSV3d HSF - GPR98_00284
Intron 19i c.3635-10C>A r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF none GPR98_00133
Intron 19i c.3635-2A>G r.(?) p.(?) - Heterozygous UV4 - Besnard et al., 2012 UV4 - - HSF none GPR98_00157
Exon 20 c.3805T>C r.(?) p.(Phe1269Leu) - Heterozygous UV2 - Le Quesne Stabej et al., 2012 UV1 0/878 controls USMA MSV3d HSF +MnlI GPR98_00042
Exon 20 c.3945dupA r.(?) p.(Gln1316Thrfs*26) - Heterozygous Pathogenic - Besnard et al., 2012 Pathogenic - - HSF none GPR98_00203
Exon 20 c.3974C>T r.(=) p.(Thr1325Met) - Heterozygous UV3 - Krawitz et al., 2014 mutation - USMA MSV3d HSF - GPR98_00276
Exon 20 c.3975G>A r.(?) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 0/878 controls - HSF -BtsCI;-FokI; GPR98_00126
Exon 20 c.4072T>C r.(?) p.(Ser1358Pro) - Heterozygous UV3 - Bonnet et al., 2016 mutation - USMA MSV3d HSF - GPR98_00525
Exon 20 c.4123G>C r.(?) p.(Asp1375His) - Heterozygous UV2 - Le Quesne Stabej et al., 2012 UV2 0/878 controls USMA MSV3d HSF +FatI;+NlaIII;+CviAII;-BtsCI;-FokI;-HpyAV; GPR98_00091
Exon 20 c.4214C>T r.(?) p.(Ser1405Phe) - Heterozygous UV2 rs41305898 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF -NlaIV GPR98_00120
Exon 20 c.4260A>G
  (Reported 2 times)
r.(?) p.(=) - Heterozygous Neutral rs61740119 Le Quesne Stabej et al., 2012 Neutral 7/832 controls - HSF +MnlI;-MboII; GPR98_00080
Intron 20i c.4378+233C>T r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none GPR98_00074
Intron 20i c.4378+685C>T
  (Reported 3 times)
r.(=) p.(=) - Heterozygous Neutral rs73181653 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none GPR98_00081
Intron 20i c.4378+974T>C r.(=) p.(=) - Heterozygous Neutral rs16868946 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +BsrI;+BmrI; GPR98_00149
Intron 20i c.4379-61G>A
  (Reported 2 times)
r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF -HpyCH4IV;-AflIII;-BsaAI; GPR98_00098
Exon 21-75 c.4379-?_16196+?del r.(?) p.(?) Calx-beta 10 (1504-1544) - Calx-beta 34 (5291-5333) Heterozygous Pathogenic RFC21-75 Bonnet et al., 2016 mutation - - - - GPR98_00532
Exon 21 c.4400G>A
  (Reported 2 times)
r.(?) p.(Gly1467Glu) - Homozygous UV3 - Glöcke et al., 2013 likely pathogenic - USMA MSV3d HSF - GPR98_00271
Exon 21 c.4506C>T
  (Reported 3 times)
r.(?) p.(=) - Homozygous Neutral rs17543819 - - - - HSF +HpyCH4V;-FauI;-AciI; GPR98_00158
Exon 22 c.4864T>C r.(?) p.(Tyr1622His) - Heterozygous UV1 rs111753827 Neveling et al., 2012 unknown - USMA MSV3d HSF +HphI;-Tsp509I ; GPR98_00245
Exon 22 c.4887_4888insATTTGCTAAT r.(?) p.(Ala1630Ilefs*3) Calx-beta 11 (1626-1666) Heterozygous Pathogenic - described as c.4887_4888insATTTGCTAAT - Yang et al., 2013 Mutation 0/400 controls - HSF - GPR98_00273
Intron 22i c.4929+87A>T
  (Reported 21 times)
r.(=) p.(=) - Homozygous Neutral rs1028191 - - - - HSF none GPR98_00159
Exon 23 c.4939A>G
  (Reported 2 times)
r.(?) p.(Ile1647Val) Calx-beta 11 (1626-1666) Homozygous UV1 rs72782753 Garcia-Garcia et al., 2013 UV1 - USMAMSV3d HSF none GPR98_00249
Exon 23 c.5104C>T r.(?) p.(Pro1702Ser) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 0/878 controls USMA MSV3d HSF -BtsCI;-FokI; GPR98_00125
Exon 24 c.5221T>C
  (Reported 2 times)
r.(?) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 0/878 controls - HSF +CviKI_1 GPR98_00049
Intron 24i c.5313+107T>C
  (Reported 7 times)
r.(=) p.(=) - Heterozygous Neutral - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +MwoI;+HpyCH4V;+Cac8I; GPR98_00026
Intron 24i c.5313+173C>T r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none GPR98_00077
Exon 25 c.5357_5358del
  (Reported 3 times)
r.(?) p.(Lys1786Ilefs*8) Calx-beta 12 (1767-1808) Heterozygous Pathogenic - Ebermann et al., 2009 - 0/50 controls - HSF none GPR98_00009
Exon 26 c.5346A>G r.(?) p.(=) Calx-beta 12 (1767-1808) Heterozygous neutral rs10067298 Le Quesne Stabej et al., 2012 Neutral 0/96 controls - HSF +BsaJI GPR98_00150
Intron 26i c.5525-7C>T
  (Reported 3 times)
r.(=) p.(=) - Heterozygous UV1 rs141528121 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF -FatI;-NlaIII;-CviAII;-XmnI; GPR98_00036
Intron 27i c.5665-23T>C
  (Reported 10 times)
r.(=) p.(=) - Heterozygous Neutral rs4916683 - - - - HSF none GPR98_00214
Exon 28 c.5671A>T r.(?) p.(Arg1891*) - Heterozygous Pathogenic - Besnard et al., 2012 Pathogenic - - HSF -PsiI GPR98_00226
Exon 28 c.5780C>T
  (Reported 4 times)
r.(?) p.(Thr1927Met) Calx-beta 13 (1911-1941) Homozygous Neutral rs17544552 - - - USMA MSV3d HSF none GPR98_00160
Exon 28 c.5785G>T r.(?) p.(Ala1929Ser) Calx-beta 13 (1911-1941) Heterozygous UV1 rs41311335 Le Quesne Stabej et al., 2012 UV1 2/846 controls USMA MSV3d HSF +BanII;+AluI;+CviKI_1;-HinP1I;-HaeII;-HhaI; GPR98_00094
Exon 28 c.5830G>A r.(?) p.(Asp1944Asn) - Heterozygous UV2 rs41302834 Bonnet et al., 2011 Presumably pathogenic 0/306 controls USMA MSV3d HSF -BsrI;-BslI; GPR98_00022
Exon 28 c.5851G>A
  (Reported 29 times)
r.(?) p.(Val1951Ile) - Homozygous Neutral rs4916684 - - - USMA MSV3d HSF none GPR98_00161
Exon 28 c.5953A>G
  (Reported 8 times)
r.(?) p.(Asn1985Asp) - Heterozygous Neutral rs41303352 - - - USMA MSV3d HSF none GPR98_00191
Exon 28 c.5960C>T
  (Reported 14 times)
r.(?) p.(Pro1987Leu) - Heterozygous Neutral rs4916685 - - - USMA MSV3d HSF none GPR98_00215
Exon 28 c.6012G>T
  (Reported 9 times)
r.(?) p.(Leu2004Phe) - Heterozygous Neutral rs16868972 Le Quesne Stabej et al., 2012 UV1 - USMA MSV3d HSF +DraI;+MseI; GPR98_00141
Exon 28 c.6093delA r.(?) p.(Ala2032Argfs*27) Calx-beta 14 (1966-2079) Heterozygous Pathogenic - Bonnet et al., 2016 mutation - - HSF - GPR98_00518
Exon 28 c.6133G>T r.(?) p.(Gly2045*) Calx-beta 14 (1966-2079) Heterozygous Pathogenic rs41308846 Bonnet et al., 2016 mutation - - HSF - GPR98_00526
Exon 28 c.6229G>A r.(?) p.(Glu2077Lys) Calx-beta 14 (2038-2078) Heterozygous UV2 - Neveling et al., 2012 unknown - USMA MSV3d HSF -TaqI GPR98_00246
Intron 28i c.6274+145G>T r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none GPR98_00040
Intron 28i c.6274+161A>C r.(=) p.(=) - Heterozygous UV1 rs111395332 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +CviKI_1;+Cac8I; GPR98_00057
Exon 29 c.6289C>T
  (Reported 3 times)
r.(?) p.(Arg2097Cys) - Heterozygous Neutral rs16868974 Le Quesne Stabej et al., 2012 Neutral 10/842 controls USMA MSV3d HSF +FatI;+NlaIII;+CviAII;-HpyCH4IV;-BmgBI; GPR98_00099
Exon 29 c.6307G>T r.(?) p.(Glu2103*) - Heterozygous Pathogenic - Le Quesne Stabej et al., 2012 Pathogenic 0/878 controls - HSF none GPR98_00095
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Legend: [ GPR98 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Location: Variant location at DNA level. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Protein Domain: Protein Domain Inheritance: Type of inheritance (e.g. heterozygous) Variant remarks: Integrates Classification: Neutral - UV1 (certainly neutral) - UV2 (likely neutral) - UV3 (likely pathogenic) - UV4 (certainly pathogenic) - Pathogenic. Except for CHM where annotations concerning the effect of the variant are mentioned instead.

dbSNP/RFC: Accession number (rs) in dbSNP or link to reading frame checker Reference: Reference describing the variation Reported effect / publication: Original classification reported by the authors. Frequency: Frequency (control chromosomes) Missense: Create a link for USMA and/or MSV3d HSF: Direct link to HSF Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. GPR98 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.