Full data view for gene MYO6


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_004999.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 12 c.1211del r.(?) p.(Gly404fs) - Parent #1 - likely pathogenic g.76564988del g.75855271del - - MYO6_000031 MYO6 mutation explains phenotype, better than CHD23 mutations, segregation analysis needed PubMed: Neveling 2013 - - Unknown ? - - - - DNA SEQ - - ?, MD - PubMed: Neveling 2013 - - - - - - - - - 1 Marcel Nelen
+?/. 12 c.1211del r.(?) p.(Gly404Glufs*4) - Parent #1 - likely pathogenic g.76564988del g.75855271del - - MYO6_000031 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
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