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chr2:48030639 A>AC

Annotations

GeneMSH6
TranscriptNM_000179.2
cDNAc.3254dupC
Proteinp.T1085fs
Functionframeshift ins
Localizationexon
hg19chr2:48030639 A>AC
dbSNPrs267608087

Synonyms

TranscriptcDNAProtein
NM_001281492.1c.2864dupCp.T955fs
NM_001281493.1c.2348dupCp.T783fs
NM_001281494.1c.2348dupCp.T783fs

Frequency in gnomAD

GenomeExome
MAX0.00010.00008114
AFR0.00010
AMR00.00002987
ASJ00
EAS00
FIN00.0000899
NFE00.00008114
SAS–0.00003259

ClinVar

IDPhenotypeEffect
RCV000074831.5Lynch syndromePathogenic
RCV000524166.2Hereditary nonpolyposis colon cancerPathogenic
RCV000115412.8Hereditary cancer-predisposing syndromePathogenic
RCV000410401.1Hereditary nonpolyposis colorectal cancer type 5Pathogenic
RCV000078312.6not providedPathogenic

HGMD

IDPhenotypeEffect
CI972618Colorectal cancer, non-polyposisDM