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chr2:48027413 C>A

Annotations

GeneMSH6
TranscriptNM_000179.2
cDNAc.2291C>A
Proteinp.T764N
Functionmissense
Localizationexon
hg19chr2:48027413 C>A

Synonyms

TranscriptcDNAProtein
NM_001281492.1c.1901C>Ap.T634N
NM_001281493.1c.1385C>Ap.T462N
NM_001281494.1c.1385C>Ap.T462N

Frequency in gnomAD

GenomeExome
MAX0.00010.00009746
AFR0.00010
AMR00
ASJ00
EAS00
FIN00
NFE00.00000898
SAS0.00009746

ClinVar

IDPhenotypeEffect
RCV000163700.4Hereditary cancer-predisposing syndromeVUS
RCV000480884.1not providedVUS
RCV000662379.1Hereditary nonpolyposis colorectal cancer type 5VUS
RCV000630065.1Hereditary nonpolyposis colon cancerVUS

HGMD

IDPhenotypeEffect
CM057195Colorectal cancer, non-polyposisDM