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LOVD-USHBases

LOVD - Variant listings for MYO7A

About this overview [Show]

Patient data (#0001115)
Patient ID FR0177321100
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 Parent #2
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Location Exon
Exon 07
DNA change c.722G>A   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Arg241His)
Protein Domain Motor domain (1-729)
Inheritance Heterozygous
Variant remarks UV3
dbSNP/RFC rs111033284
Reference Roux et al., 2011
Reported effect / publication -
Frequency 0/180 controls
Missense USMA MSV3d
HSF HSF
Re-site +NspI;+FatI;+NlaIII;-HpyCH4IV;-PmlI;-BsaAI;
DB-ID MYO7A_00284

7 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
-/- Parent #2 Exon 03 c.47T>C r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031
+?/? Parent #2 Exon 07 c.722G>A r.(?) p.(Arg241His) Motor domain (1-729) Heterozygous UV3 rs111033284 Roux et al., 2011 - 0/180 controls USMA MSV3d HSF +NspI;+FatI;+NlaIII;-HpyCH4IV;-PmlI;-BsaAI; MYO7A_00284
+?/? Parent #1 Exon 45 c.6062A>G r.(?) p.(Lys2021Arg) FERM 2 (1902-2205) Heterozygous UV3 - Roux et al., 2011 - 0/184 controls USMA MSV3d HSF +BssKI;+StyD4I;+BstNI;+PspGI;+ScrFI;+BsaJI; MYO7A_00283
-/- 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
-/- Paternal (inferred) Intron 48i c.6558+51G>T r.(=) p.(=) - Homozygous Neutral rs948959 - - - - HSF +DdeI;+BlpI;+AluI;+CviKI_1; MYO7A_00020
-/- Maternal (inferred) Intron 48i c.6558+51G>T r.(=) p.(=) - Homozygous Neutral rs948959 - - - - HSF +DdeI;+BlpI;+AluI;+CviKI_1; MYO7A_00020