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LOVD-USHBases

LOVD - Variant listings for MYO7A

About this overview [Show]

Patient data (#0003646)
Patient ID FR0103700110
Disease Non-syndromic Deafness (DFN)
Reference Besnard, Garcia-Garcia et al., 2014
Template DNA
Technique SEQ, SEQ-NG-S
Remarks Proband
# Reported 1
Gender Female
Geographic origin -
Submitter Anne-Françoise Roux

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Location Intron
Exon 07i
DNA change c.736-47C>A   (View in UCSC Genome Browser, Ensembl)
RNA change r.(=)
Protein p.(=)
Protein Domain -
Inheritance Heterozygous
Variant remarks Neutral
dbSNP/RFC rs3737454
Reference Besnard, Garcia-Garcia et al., 2014
Reported effect / publication -
Frequency -
Missense -
HSF HSF
Re-site -BseRI
DB-ID MYO7A_00095

3 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
-/- Unknown Intron 07i c.736-47C>A r.(=) p.(=) - Heterozygous Neutral rs3737454 Besnard, Garcia-Garcia et al., 2014 - - - HSF -BseRI MYO7A_00095
-/- Unknown Exon 08 c.783T>C r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047
-?/? Unknown Intron 08i c.849+7C>G r.(=) p.(=) - Heterozygous UV2 - Besnard, Garcia-Garcia et al., 2014 - - - HSF +BglI;+MwoI;+SfiI; MYO7A_00489