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LOVD-USHBases

LOVD - Variant listings for MYO7A

About this overview [Show]

Patient data (#0000852)
Patient ID MA0101000012
Disease Usher type I (USH1)
Reference Adato et al., 1997
Template DNA
Technique SEQ
Remarks Proband
# Reported 1
Gender -
Geographic origin MOROCCO
Submitter Anne-Françoise Roux

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Location Exon
Exon 07
DNA change c.640G>A   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Gly214Arg)
Protein Domain Motor domain (1-729)
Inheritance Homozygous
Variant remarks Pathogenic
dbSNP/RFC rs111033283
Reference Adato et al., 1997
Reported effect / publication -
Frequency 0/200 controls
Missense USMA MSV3d
HSF HSF
Re-site none
DB-ID MYO7A_00118

2 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
+/+ Paternal (inferred) Exon 07 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Homozygous Pathogenic rs111033283 Adato et al., 1997 - 0/200 controls USMA MSV3d HSF none MYO7A_00118
+/+ Maternal (inferred) Exon 07 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Homozygous Pathogenic rs111033283 Adato et al., 1997 - 0/200 controls USMA MSV3d HSF none MYO7A_00118