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LOVD-USHBases

LOVD - Variant listings for MYO7A

About this overview [Show]

Patient data (#0003627)
Patient ID FR01108029701
Disease Usher type I (USH1)
Reference Besnard, Garcia-Garcia et al., 2014
Template DNA
Technique SEQ, SEQ-NG-S
Remarks Proband
# Reported 1
Gender Male
Geographic origin -
Submitter Anne-Françoise Roux

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Location Intron
Exon 07i
DNA change c.736-47C>A   (View in UCSC Genome Browser, Ensembl)
RNA change r.(=)
Protein p.(=)
Protein Domain -
Inheritance Heterozygous
Variant remarks Neutral
dbSNP/RFC rs3737454
Reference Besnard, Garcia-Garcia et al., 2014
Reported effect / publication -
Frequency -
Missense -
HSF HSF
Re-site -BseRI
DB-ID MYO7A_00095

33 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 Exon 03 c.47T>C r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 Besnard, Garcia-Garcia et al., 2014 - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031
-/- Unknown Intron 07i c.736-47C>A r.(=) p.(=) - Heterozygous Neutral rs3737454 Besnard, Garcia-Garcia et al., 2014 - - - HSF -BseRI MYO7A_00095
-/- Unknown Exon 08 c.783T>C r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047
-/- Unknown Intron 09i c.1004-35C>G r.(=) p.(=) - Heterozygous Neutral rs2071151 Besnard, Garcia-Garcia et al., 2014 - - - HSF - MYO7A_00094
-/- Unknown Intron 10i c.1080+65T>C r.(=) p.(=) - Heterozygous Neutral rs4944145 - - - - HSF +BsrI;+TspRI;+BmrI; MYO7A_00060
-/- Unknown Intron 12i c.1343+8G>A r.(=) p.(=) - Heterozygous Neutral rs2276278 Besnard, Garcia-Garcia et al., 2014 - - - HSF +FatI;+NlaIII;+CviAII;-BstUI; MYO7A_00093
-/- Unknown Intron 14i c.1690+130_1690+131dup r.(=) p.(=) - Heterozygous Neutral rs55700684 - - - - HSF none MYO7A_00359
-/- Unknown Intron 16i c.1936-23G>A r.(=) p.(=) - Heterozygous Neutral rs2276283 - - - - HSF -SfaNI MYO7A_00046
-/- Unknown Intron 20i c.2367+67T>C r.(=) p.(=) - Heterozygous Neutral rs10793239 - - - - HSF +MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI; MYO7A_00059
-/- Unknown Intron 22i c.2694+58G>A r.(=) p.(=) - Heterozygous Neutral rs1109163 - - - - HSF +StyI;-AvaI;-BsoBI;-MnlI; MYO7A_00048
-/- Unknown Intron 23i c.2905-54A>G r.(=) p.(=) - Heterozygous Neutral rs7117606 - - - - HSF +FauI;+AciI; MYO7A_00045
-/- Unknown Intron 26i c.3375+33G>C r.(=) p.(=) - Heterozygous Neutral rs948972 - - - - HSF -PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI; MYO7A_00071
-/- Unknown Intron 27i c.3503+12_3503+33del22 r.(=) p.(=) - Heterozygous Neutral rs111033223 - - - - HSF -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; MYO7A_00043
-/- Unknown Intron 30i c.3924+12C>T r.(=) p.(=) - Heterozygous Neutral rs2276285 - - - - HSF +PspGI;+BstNI;-HpaII;-NciI;-MspI; MYO7A_00042
-/- Unknown Intron 30i c.3924+109G>A r.(=) p.(=) - Heterozygous Neutral rs4944148 - - - - HSF +BspCNI;+DdeI;+BsaJI; MYO7A_00058
-/- Unknown Intron 32i c.4323+35G>T r.(=) p.(=) - Heterozygous Neutral rs1109977 - - - - HSF -BtsCI;-Hpy166II;-FokI; MYO7A_00041
-/- Unknown Intron 33i c.4441+89T>A r.(=) p.(=) - Heterozygous Neutral - - - - - HSF - MYO7A_00107
-/- Unknown Exon 35 c.4755C>T r.(?) p.(=) FERM 1 (1258-1602) Heterozygous Neutral rs7927472 - - - - HSF +BsrI;-BsrDI; MYO7A_00039
-/- Unknown Exon 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Heterozygous Neutral rs2276288 - - - USMA MSV3d HSF -TspRI MYO7A_00054
-/- Unknown Exon 41 c.5715A>G r.(?) p.(=) FERM 2 (1902-2205) Heterozygous Neutral rs2276293 - - - - HSF none MYO7A_00038
-/- Unknown Intron 41i c.5743-12T>C r.(=) p.(=) - Heterozygous Neutral rs2276291 - - - - HSF +AciI;+HphI;-TspRI;-BtsI; MYO7A_00027
+?/? Unknown Exon 42 c.5803C>A r.(?) p.(Leu1935Met) FERM 2 (1902-2205) Heterozygous UV3 - Besnard, Garcia-Garcia et al., 2014 - - USMA MSV3d HSF +BtsCI;+FokI;+MslI;-ApeKI;-BbvI;-CviKI_1; MYO7A_00485
-/- Unknown Intron 42i c.5856+50G>A r.(=) p.(=) - Heterozygous Neutral rs2276290 - - - - HSF none MYO7A_00026
-/- Unknown Intron 42i c.5857-7A>T r.(=) p.(=) - Heterozygous Neutral rs1320703 - - - - HSF +BsmFI;-AhdI; MYO7A_00052
-/- Unknown Exon 43 c.5860C>A r.(?) p.(Leu1954Ile) FERM 2 (1902-2205) Heterozygous Neutral rs948962 - - - USMA MSV3d HSF -Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI; MYO7A_00053
-/- Unknown Intron 43i c.5944+57G>A r.(=) p.(=) - Heterozygous Neutral rs948961 - - - - HSF +DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI; MYO7A_00051
-/- Unknown Intron 43i c.5944+67C>T r.(=) p.(=) - Heterozygous Neutral rs948960 - - - - HSF -BceAI MYO7A_00050
-/? Unknown Intron 44i c.5945-21A>G r.(?) p.(=) - Heterozygous - - Besnard, Garcia-Garcia et al., 2014 - - - - +BslI;+CviKI_1;+EaeI;-BstEII;-HphI;-Tsp45I; MYO7A_00486
-/- Unknown Intron 44i c.6051+17T>A r.(=) p.(=) - Heterozygous Neutral rs1320702 - - - - HSF +SpeI MYO7A_00025
-/- Unknown Intron 44i c.6051+155T>C r.(=) p.(=) - Heterozygous Neutral rs11237122 - - - - HSF +BsmFI;+BceAI;-BccI;-FokI;-PflMI;-BtsCI; MYO7A_00049
-/- Paternal (inferred) Intron 47i c.6438+50A>T r.(=) p.(=) - Homozygous Neutral rs2276289 - - - - HSF +BspCNI;+MnlI;+Hpy188I;+DdeI; MYO7A_00024
-/- Maternal (inferred) Intron 47i c.6438+50A>T r.(=) p.(=) - Homozygous Neutral rs2276289 - - - - HSF +BspCNI;+MnlI;+Hpy188I;+DdeI; MYO7A_00024
-/- Unknown Intron 48i c.6558+51G>T r.(=) p.(=) - Heterozygous Neutral rs948959 - - - - HSF +DdeI;+BlpI;+AluI;+CviKI_1; MYO7A_00020

2 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 Exon 03 03 c.226C>T r.(?) p.(Gln76*) N-domain (1-86) Heterozygous Pathogenic - Besnard, Garcia-Garcia et al., 2014 - - - HSF -BclI;-BfuCI;-DpnI;-DpnII;-MboI;-MspA1I; USH1C_00079
+?/? Unknown Exon 04 04 c.311G>A r.(?) p.(Gly104Asp) PDZ 1 (87-155) Heterozygous UV3 - Besnard, Garcia-Garcia et al., 2014 - - USMA MSV3d HSF +BccI USH1C_00080