Variant #0000416416 (NC_000002.11:g.48009816T>G, MSH6(NM_000179.2):c.-557T>G)

Individual ID 00187886
Chromosome 2
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48009816T>G
DNA change (hg38) g.47782677T>G
Published as -556G>T (rs3136228)
ISCN -
DB-ID MSH6_000597 See all 5 reported entries
Variant remarks -
Reference PubMed: Tulupova 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Michael Woods
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 ?/. 1 c.-557T>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188855 DNA ? - - MSH6 2 Michael Woods