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
Options




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)