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LOVD-USHBases

LOVD - Variant listings for MYO7A

About this overview [Show]

Patient data (#0004740)
Patient ID US07022-1161
Disease Usher type I (USH1)
Reference Bujakowska et al., 2014
Template DNA
Technique SEQ, SEQ-NG-S
Remarks Proband
# Reported 1
Gender Male
Geographic origin U.S.A.
Submitter Anne-Françoise Roux

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Location Exon
Exon 04
DNA change c.284A>G   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Tyr95Cys)
Protein Domain Motor domain (1-729)
Inheritance Heterozygous
Variant remarks UV3
dbSNP/RFC -
Reference Bujakowska et al., 2014
Reported effect / publication -
Frequency -
Missense USMA MSV3d
HSF HSF
Re-site -
DB-ID MYO7A_00531

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 (confirmed) Exon 04 c.284A>G r.(?) p.(Tyr95Cys) Motor domain (1-729) Heterozygous UV3 - Bujakowska et al., 2014 - - USMA MSV3d HSF - MYO7A_00531
+/+ Maternal (confirmed) Exon 16 c.1837C>T r.(?) p.(Gln613*) Motor domain (1-729) Heterozygous Pathogenic - Bujakowska et al., 2014 - - - HSF - MYO7A_00532