Variant #0000652062 (NC_000006.11:g.76538307C>T, MYO6(NM_004999.3):c.238C>T)

Individual ID 00294205
Chromosome 6
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
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 PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs727504567
Origin Germline
Segregation -
Frequency 1/2793 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)     

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