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LOVD-USHBases

LOVD - Variant listings for MYO7A

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Patient data (#0000782)
Patient ID FR0200300012
Disease Usher type I (USH1)
Reference Levy et al., 1997
Template DNA
Technique SEQ
Remarks Proband
# Reported 1
Gender -
Geographic origin -
Submitter Anne-Françoise Roux

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Location Exon
Exon 07
DNA change c.652_657del   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Asp218_Ile219del)
Protein Domain Motor domain (1-729)
Inheritance Heterozygous
Variant remarks Pathogenic
dbSNP/RFC -
Reference Levy et al., 1997
Reported effect / publication -
Frequency -
Missense -
HSF HSF
Re-site -
DB-ID MYO7A_00128

1 entry 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
+/+ Unknown Exon 07 c.652_657del r.(?) p.(Asp218_Ile219del) Motor domain (1-729) Heterozygous Pathogenic - Levy et al., 1997 - - - HSF - MYO7A_00128