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LOVD-USHBases

LOVD - Variant listings for MYO7A

About this overview [Show]

Patient data (#0004233)
Patient ID LB01LB1220030
Disease Usher type I (USH1)
Reference Reddy et al., 2014, Canada:Montreal
Template DNA
Technique SEQ, SEQ-NG-S
Remarks Proband
# Reported 1
Gender Female
Geographic origin LEBANON
Submitter Rima Slim

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Location Exon
Exon 08
DNA change c.834C>A   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Tyr278*)
Protein Domain Motor domain (1-729)
Inheritance Homozygous
Variant remarks Pathogenic
dbSNP/RFC -
Reference Reddy et al., 2014
Reported effect / publication mutation
Frequency -
Missense -
HSF HSF
Re-site -
DB-ID MYO7A_00518

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 08 c.834C>A r.(?) p.(Tyr278*) Motor domain (1-729) Homozygous Pathogenic - Reddy et al., 2014 mutation - - HSF - MYO7A_00518
+/+ Maternal (inferred) Exon 08 c.834C>A r.(?) p.(Tyr278*) Motor domain (1-729) Homozygous Pathogenic - Reddy et al., 2014 mutation - - HSF - MYO7A_00518