Genomic variant #0000415571

Individual ID 00187077
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.48010480T>G
DNA change (hg38) -
Published as T->G at 108
ISCN -
DB-ID MSH6_000009 See all 5 reported entries
Variant remarks -
Reference PubMed: Nicolaides 1996
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 INSiGHT group




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH6 NM_000179.2 ?/. 1 c.108T>G VUS r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188046 DNA SEQ - - MSH6 1 INSiGHT group