Genomic variant #0000366962

Individual ID 00163051
Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.76527290C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID MYO6_000023
Variant remarks heterozygous, {MSV3dQ9UM54:p.Ala9Val}
Reference PubMed: Baux, Vaché et al., 2017
ClinVar ID -
dbSNP ID rs199508553
Origin Germline
Segregation -
Frequency -
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 +?/? 2 c.26C>T UV3 (ACMG: 3) r.(=) p.(Ala9Val) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000163916 DNA SEQ;SEQ-NG-S - - MYO6 1 Anne-Françoise Roux