Genomic variant #0000366999

Individual ID 00163087
Chromosome 6
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.76566915G>A
DNA change (hg38) -
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)     

ClassClinical     

RNA change     

Protein     

P-domain     
MYO6 NM_004999.3 +?/? 13 c.1325G>A UV3 (ACMG: 3) r.(?) p.(Cys442Tyr) Motor domain (57-771)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000163952 DNA SEQ - - MYO6 1 Anne-Françoise Roux