Variant #0000367003 (NC_000006.11:g.76566915G>A, MYO6(NM_004999.3):c.1325G>A)

Individual ID 00163091
Chromosome 6
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.76566915G>A
DNA change (hg38) g.75857198G>A
Published as -
ISCN -
DB-ID MYO6_000001 See all 9 reported entries
Variant remarks heterozygous, {MSV3dQ9UM54:p.Cys442Tyr}
Reference PubMed: Melchionda et al., 2001
ClinVar ID -
dbSNP ID rs121912557
Origin Germline
Segregation -
Frequency 0/800 controls
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne-Françoise Roux
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MYO6 NM_004999.3 +/+ 13 c.1325G>A r.(?) p.(Cys442Tyr) Motor domain (57-771)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000163956 DNA SEQ - - MYO6 1 Anne-Françoise Roux