Variant #0000000033 (NC_000011.9:g.76877119C>T, MYO7A(NM_000260.3):c.1708C>T)

Individual ID 00000045
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.76877119C>T
Reference -
DB-ID MYO7A_000001
Average frequency (gnomAD v.2.1.1) Retrieve
Owner variome.ir
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by variome.ir
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Classification     
MYO7A NM_000260.3 +/+ - c.1708C>T r.(?) p.(Arg570*) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000045 DNA SEQ-NG MYO7A 1 variome.ir