Genomic variant #0000129184

Individual ID 00080139
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76540142G>A
DNA change (hg38) g.75830425G>A
Published as -
ISCN -
DB-ID MYO6_000037
Variant remarks -
Reference PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Mieke Wesdorp
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
MYO6 NM_004999.3 ?/. 5 c.271G>A - r.(?) p.(Ala91Thr) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080233 DNA SEQ-NG - - - 1 Mieke Wesdorp