Genomic variant #0000366988

Individual ID 00163077
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.76551016A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID MYO6_000005 See all 10 reported entries
Variant remarks heterozygous, {MSV3dQ9UM54:p.His246Arg}
Reference PubMed: Mohiddin et al., 2004
ClinVar ID -
dbSNP ID rs121912560
Origin Germline
Segregation -
Frequency 0/702 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 +/+ 9 c.737A>G UV3 (ACMG: 3) r.(?) p.(His246Arg) Motor domain (57-771)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000163942 DNA SEQ - - MYO6 1 Anne-Françoise Roux