Genomic variant #0000652062

Individual ID 00294205
Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76538307C>T
DNA change (hg38) g.75828590C>T
Published as -
ISCN -
DB-ID MYO6_000102
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference Faruq 2020, submtted
ClinVar ID -
dbSNP ID rs727504567
Origin Germline
Segregation -
Frequency 1/2792 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
MYO6 NM_004999.3 +?/. - c.238C>T - r.(?) p.(Arg80*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295373 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq