WARNING: This database is no longer updated. Please visit LOVD3 shared for the current install.

LOVD-USHBases

LOVD - Variant listings for MYO7A

About this overview [Show]

Patient data (#0002460)
Patient ID FR0180321982
Disease Usher type I (USH1)
Reference Roux et al., 2011
Template DNA
Technique SEQ
Remarks Proband
# Reported 1
Gender Female
Geographic origin FRANCE
Submitter Anne-Françoise Roux

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 -
Reported effect / publication -
Frequency -
Missense -
HSF HSF
Re-site +PstI;+HpyCH4V;+SfcI;-AciI;
DB-ID MYO7A_00298

18 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 06i c.593-5C>T r.(?) p.(?) - Heterozygous UV2 rs762666 - - - - HSF +PstI;+HpyCH4V;+SfcI;-AciI; MYO7A_00298
-/- Unknown Exon 08 c.783T>C r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047
-/- 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 Exon 31 c.4117C>T r.(?) p.(Arg1373*) FERM 1 (1258-1602) Heterozygous Pathogenic - Roux et al., 2011 - - - HSF -MwoI;-BstAPI; MYO7A_00185
-/- Unknown Intron 32i c.4323+35G>T r.(=) p.(=) - Heterozygous Neutral rs1109977 - - - - HSF -BtsCI;-Hpy166II;-FokI; MYO7A_00041
-/- Unknown Intron 33i c.4441+89T>C r.(=) p.(=) - Heterozygous Neutral rs11237115 - - - - HSF -BsrDI MYO7A_00040
-/- Unknown Exon 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Heterozygous Neutral rs2276288 - - - USMA MSV3d HSF -TspRI MYO7A_00054
+/+ Unknown Exon 42-49 c.5750_*2614del r.(?) p.(Phe1916_Lys2215del) FERM 2 (1902-2205) Heterozygous Pathogenic RFC42-49 Roux et al., 2011 - - - - - MYO7A_00348
-/- Unknown Intron 47i c.6438+50A>T r.(=) p.(=) - Hemizygous Neutral rs2276289 - - - - HSF +BspCNI;+MnlI;+Hpy188I;+DdeI; MYO7A_00024
-/- Unknown Intron 48i c.6558+51G>T r.(=) p.(=) - Hemizygous Neutral rs948959 - - - - HSF +DdeI;+BlpI;+AluI;+CviKI_1; MYO7A_00020