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LOVD-USHBases

LOVD - Variant listings for MYO7A

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Patient data (#0002812)
Patient ID UK0318200012
Disease Usher type I (USH1)
Reference Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON
Template DNA
Technique SEQ
Remarks Proband
# Reported 1
Gender -
Geographic origin U.K.
Submitter Maria Bitner-Glindzicz

Variant data
Allele Unknown
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
Location Intron
Exon 06i
DNA change c.593-5C>T   (View in UCSC Genome Browser, Ensembl)
RNA change r.(=)
Protein p.(=)
Protein Domain -
Inheritance Heterozygous
Variant remarks UV2
dbSNP/RFC rs762666
Reference Le Quesne Stabej et al., 2012
Reported effect / publication UV1
Frequency 0/96 controls
Missense -
HSF HSF
Re-site +PstI;+HpyCH4V;+SfcI;-AciI;
DB-ID MYO7A_00298

11 entries in CDH23

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Protein Domain Descending
Ascending
Inheritance Descending
Ascending
Variant remarks Descending
Ascending
dbSNP/RFC Descending
Ascending
Reference Descending
Ascending
Reported effect / publication Descending
Ascending
Frequency Descending
Ascending
Missense Descending
Ascending
HSF Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
-/? Unknown Intron 02i c.146-120C>T r.(=) p.(=) - Heterozygous UV1 rs116150071 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF -EcoNI;-CviKI_1;-HaeIII;-BslI;-Cac8I;-PhoI; CDH23_00248
-/? Unknown Exon 03 c.173A>G r.(?) p.(Gln58Arg ) Cadherin 1 (34-132) Heterozygous UV1 rs61732490 Le Quesne Stabej et al., 2012 UV1 0/96 controls USMA MSV3d HSF +BsmAI;+BsoBI;+AvaI;-PflMI; CDH23_00249
-/- Unknown Exon 03 c.204C>T r.(?) p.(=) Cadherin 1 (34-132) Heterozygous Neutral rs116624130 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF none CDH23_00250
-/? Paternal (inferred) Intron 06 NM_001171935.1:c.444+3T>C r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 0/96 controls - - - CDH23_00252
-/- Unknown Intron 07i c.754-198C>T r.(=) p.(=) - Heterozygous Neutral rs74147345 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF -BsaJI;-BtgI; CDH23_00254
-/? Unknown Intron 27i c.3369+1543C>T r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF -ApaLI;-BaeGI;-BsiHKAI;-Hpy166II;-Bsp1286I; CDH23_00251
-/? Paternal (inferred) Intron 44i c.5923+77T>C r.(=) p.(=) - Homozygous UV1 rs112854062 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF +CviAII;+NlaIII;+FatI;+MnlI; CDH23_00191
-/? Maternal (inferred) Intron 44i c.5923+77T>C r.(=) p.(=) - Homozygous UV1 rs112854062 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF +CviAII;+NlaIII;+FatI;+MnlI; CDH23_00191
-/? Unknown Intron 50i c.7224+37C>T r.(=) p.(=) - Heterozygous UV1 rs150381013 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +BaeGI;+Bsp1286I;-HinP1I;-BspMI;-HhaI;-BfuAI; CDH23_00253
-/? Unknown Intron 67i c.9634-100G>A r.(=) p.(=) - Heterozygous UV1 rs146838188 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +TfiI;+HinfI;-BssKI;-AlwI;-StyD4I;-BstN; CDH23_00255
-/- Unknown Exon 69 c.9873G>A r.(?) p.(=) Cytoplasmic (3086-3354) Heterozygous Neutral rs2290021 Le Quesne Stabej et al., 2012 Neutral 0/96 controls - HSF +BtsI;+TspRI;-Fnu4HI;-ApeKI;-BbvI;-TseI; CDH23_00247

1 entry in CLRN1

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Protein Domain Descending
Ascending
Inheritance Descending
Ascending
Variant remarks Descending
Ascending
dbSNP/RFC Descending
Ascending
Reference Descending
Ascending
Reported effect / publication Descending
Ascending
Frequency Descending
Ascending
Missense Descending
Ascending
HSF Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
Genomic DNA change Descending
Ascending
-/? Unknown 3' UTR 03 c.*407G>A r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - -Hpy188I CLRN1_00025 g.150645316C>T

10 entries in GPR98

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Protein Domain Descending
Ascending
Inheritance Descending
Ascending
Variant remarks Descending
Ascending
dbSNP/RFC Descending
Ascending
Reference Descending
Ascending
Reported effect / publication Descending
Ascending
Frequency Descending
Ascending
Missense Descending
Ascending
HSF Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
-/? Unknown 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
-/- Unknown 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
-/- Unknown 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
-/- Unknown Intron 32i c.7133+48G>A r.(=) p.(=) - Heterozygous Neutral rs73193236 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none GPR98_00072
-/? Unknown Exon 33 c.7293C>T r.(?) p.(=) - Heterozygous UV1 rs77791584 Le Quesne Stabej et al., 2012 UV1 0/878 controls - HSF -BceAI;-BsaJI;-BtgI; GPR98_00073
-/? Unknown Intron 49i c.10427-83_10427-81delTTT r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none GPR98_00065
-/- Paternal (inferred) Intron 53i c.11122-24C>T r.(=) p.(=) - Homozygous Neutral rs80057006 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none GPR98_00066
-/- Maternal (inferred) Intron 53i c.11122-24C>T r.(=) p.(=) - Homozygous Neutral rs80057006 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none GPR98_00066
-/- Unknown Intron 54i c.11377+174C>T r.(=) p.(=) - Heterozygous Neutral rs78795514 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +DdeI;-BfaI; GPR98_00067
-/? Unknown Intron 68i c.13893+70G>T r.(=) p.(=) - Heterozygous UV1 rs41304888 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none GPR98_00068

6 entries in MYO7A

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Protein Domain Descending
Ascending
Inheritance Descending
Ascending
Variant remarks Descending
Ascending
dbSNP/RFC Descending
Ascending
Reference Descending
Ascending
Reported effect / publication Descending
Ascending
Frequency Descending
Ascending
Missense Descending
Ascending
HSF Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
-?/? Unknown Intron 06i c.593-5C>T r.(=) p.(=) - Heterozygous UV2 rs762666 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF +PstI;+HpyCH4V;+SfcI;-AciI; MYO7A_00298
-?/? Unknown Exon 22 c.2617C>T r.(?) p.(Arg873Trp) - Heterozygous UV2 - Le Quesne Stabej et al., 2012 UV1 1/874 controls USMA MSV3d HSF -Fnu4HI;-AciI; MYO7A_00426
+?/? Unknown Exon 29 c.3718C>T r.(?) p.(Arg1240Trp) MyTH4 1 (1017-1253) Heterozygous UV3 - Le Quesne Stabej et al., 2012 UV3 0/192 controls USMA MSV3d HSF +FatI;+NlaIII;+CviAII; MYO7A_00152
-/? Unknown Intron 44i c.6051+226T>C r.(=) p.(=) - Heterozygous UV1 rs114305432 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +MnlI;-AluI; MYO7A_00427
+/+ Unknown Exon 47 c.6377delC r.(?) p.(Pro2126Leufs*5) FERM 2 (1902-2205) Heterozygous Pathogenic - Le Quesne Stabej et al., 2012 Pathogenic - - HSF +Hpy188III MYO7A_00428
-?/? Unknown Exon 49 c.6626G>A r.(?) p.(Arg2209Gln) - Heterozygous UV2 - Le Quesne Stabej et al., 2012 UV1 0/878 controls USMA MSV3d HSF -FauI;-MspA1I;-AciI; MYO7A_00429

1 entry in PCDH15

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Protein Domain Descending
Ascending
Inheritance Descending
Ascending
Variant remarks Descending
Ascending
dbSNP/RFC Descending
Ascending
Reference Descending
Ascending
Reported effect / publication Descending
Ascending
Frequency Descending
Ascending
Missense Descending
Ascending
HSF Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
-/- Unknown Intron 08i c.876+134G>A r.(=) p.(=) - Heterozygous Neutral rs11004226 Le Quesne Stabej et al., 2012 Not Assessed - - HSF -Hpy188I PCDH15_00119

3 entries in USH1C

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
Exon historical Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Protein Domain Descending
Ascending
Inheritance Descending
Ascending
Variant remarks Descending
Ascending
dbSNP/RFC Descending
Ascending
Reference Descending
Ascending
Reported effect / publication Descending
Ascending
Frequency Descending
Ascending
Missense Descending
Ascending
HSF Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
-/? Unknown Intron 12i 12i c.1020-42C>T r.(=) p.(=) - Heterozygous UV1 rs146119431 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none USH1C_00064
-/- Unknown Exon 23 18 c.2347G>T r.(?) p.(Ala783Ser) PDZ 3 (752-825) Heterozygous Neutral rs34077456 Le Quesne Stabej et al., 2012 Neutral 0/96 controls USMA MSV3d HSF +MboII USH1C_00024
-/? Unknown 3' UTR 27i 21i c.*181G>A r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 1/844 controls - - none USH1C_00063

2 entries in USH1G

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Protein Domain Descending
Ascending
Inheritance Descending
Ascending
Variant remarks Descending
Ascending
dbSNP/RFC Descending
Ascending
Reference Descending
Ascending
Reported effect / publication Descending
Ascending
Frequency Descending
Ascending
Missense Descending
Ascending
HSF Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
-/- Unknown Exon 02 c.388A>G r.(?) p.(Lys130Glu) Central (127-384) Heterozygous Neutral rs111033465 Le Quesne Stabej et al., 2012 UV1 0/878 controls USMA MSV3d HSF +BsoBI;+AvaI;-BstXI; USH1G_00015
-/? Unknown 3' UTR 03 c.*215T>C r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +BsaJI;-DdeI;-BspCNI; USH1G_00014

8 entries in USH2A

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Protein Domain Descending
Ascending
Inheritance Descending
Ascending
Variant remarks Descending
Ascending
dbSNP/RFC Descending
Ascending
Reference Descending
Ascending
Reported effect / publication Descending
Ascending
Frequency Descending
Ascending
Missense Descending
Ascending
HSF Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
-/? Unknown Intron 31i c.6164-42A>C r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed - - HSF +HpyCH4III USH2A_00589
-/- Paternal (inferred) Intron 36i c.6957+19A>G r.(=) p.(=) - Homozygous Neutral rs6689120 Le Quesne Stabej et al., 2012 Neutral 82/872 controls - HSF +HpyCH4IV USH2A_00048
-/- Maternal (inferred) Intron 36i c.6957+19A>G r.(=) p.(=) - Homozygous Neutral rs6689120 Le Quesne Stabej et al., 2012 Neutral 82/872 controls - HSF +HpyCH4IV USH2A_00048
-/? Unknown Exon 40 c.7584C>T r.(?) p.(=) Fibronectin type-III 11 (2435-2528) Heterozygous UV1 rs78250390 Le Quesne Stabej et al., 2012 UV1 1/872 controls - HSF +PstI;+HpyCH4V;+SfcI;-AciI; USH2A_00520
-/- Unknown Intron 42i c.8559-65T>C r.(=) p.(=) - Heterozygous Neutral rs7518358 Le Quesne Stabej et al., 2012 Neutral - - HSF +AvaI;+BsoBI;+BslI;-BspCNI;-DdeI; USH2A_00073
-/- Unknown Intron 43i c.8682-53A>G r.(=) p.(=) - Heterozygous Neutral rs115882431 Le Quesne Stabej et al., 2012 Neutral - - HSF none USH2A_00117
-/? Unknown Exon 55 c.10836C>A r.(?) p.(=) Fibronectin type-III 21 (3590-3676) Heterozygous UV1 rs61276761 Le Quesne Stabej et al., 2012 UV1 1/830 controls - HSF +Hpy166II;+CviQI;+RsaI;-BsmFI USH2A_00459
-?/? Unknown Exon 64 c.13984C>G r.(?) p.(Gln4662Glu) Fibronectin type-III 32 (4633-4730) Heterozygous UV2 rs41302237 Le Quesne Stabej et al., 2012 UV1 0/878 controls USMA MSV3d HSF +BpmI;-NlaIV;-BbvI;-Fnu4HI;-ApeKI;-HpyCH4V; USH2A_00443

1 entry in WHRN

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Protein Domain Descending
Ascending
Inheritance Descending
Ascending
Variant remarks Descending
Ascending
dbSNP/RFC Descending
Ascending
Reference Descending
Ascending
Reported effect / publication Descending
Ascending
Frequency Descending
Ascending
Missense Descending
Ascending
HSF Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
-/- Unknown Intron 01i c.618+626A>G r.(=) p.(=) - Heterozygous Neutral rs79604999 Le Quesne Stabej et al., 2012 Not Assessed - - HSF +BssKI;+NlaIV;+StyD4I;+BstNI;+PspGI;-BfaI; WHRN_00055