Variant #0000417689 (NC_000002.11:g.48010410A>C, MSH6(NM_000179.2):c.38A>C)

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.48010410A>C
DNA change (hg38) g.47783271A>C
Published as K13T
ISCN -
DB-ID MSH6_000033 See all 5 reported entries
Variant remarks PolyPhen possibly damaging
Reference PubMed: Barnetson 2008
ClinVar ID -
dbSNP ID -
Origin In silico
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Rolf Sijmons
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.38A>C r.(?) p.(Lys13Thr)