Genomic variant #0000415582

Individual ID 00187083
Chromosome 2
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48010488G>A
DNA change (hg38) -
Published as G>A at 116
ISCN -
DB-ID MSH6_000915 See all 88 reported entries
Variant remarks -
Reference PubMed: Plaschke 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.17965 View details
Owner INSiGHT group




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH6 NM_000179.2 ?/. 1 c.116G>A VUS r.(?) p.(Gly39Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188052 DNA SEQ - - MSH6 1 INSiGHT group