Genomic variant #0000366997

Individual ID 00163069
Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.76558185C>T
DNA change (hg38) g.75848468C>T
Published as -
ISCN -
DB-ID MYO6_000022
Variant remarks heterozygous, {MSV3dQ9UM54:p.(Arg339Trp)}
Reference PubMed: Yang et al., 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0/400 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 +?/? 11 c.1015C>T r.(?) p.(Arg339Trp) Motor domain (57-771)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000163934 DNA SEQ;SEQ-NG-S - - MYO6 2 Anne-Françoise Roux