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LOVD-USHBases

LOVD - Variant listings for MYO7A

About this overview [Show]

Patient data (#0005382)
Patient ID ALG01U0194950
Disease Usher type I (USH1)
Reference Abdi et al., 2016, France:Paris
Template DNA
Technique SEQ
Remarks Proband
# Reported 1
Gender Female
Geographic origin ALGERIA
Submitter Crystel Bonnet

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Location Intron
Exon 05i
DNA change c.470+1G>A   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(?)
Protein Domain -
Inheritance Homozygous
Variant remarks Pathogenic
dbSNP/RFC -
Reference Abdi et al., accepted in Plos One
Reported effect / publication -
Frequency -
Missense -
HSF HSF
Re-site -
DB-ID MYO7A_00192

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) Intron 05i c.470+1G>A r.(?) p.(?) - Homozygous Pathogenic - Abdi et al., accepted in Plos One - - - HSF - MYO7A_00192
+/+ Maternal (inferred) Intron 05i c.470+1G>A r.(?) p.(?) - Homozygous Pathogenic - Abdi et al., accepted in Plos One - - - HSF - MYO7A_00192