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HomeVariants

chr2:48027675 CAAG>C

Annotations

GeneMSH6
TranscriptNM_000179.2
cDNAc.2554_2556del
Proteinp.852_852del
Functionin-frame del
Localizationexon
hg19chr2:48027675 CAAG>C

Synonyms

TranscriptcDNAProtein
NM_001281492.1c.2164_2166delp.722_722del
NM_001281493.1c.1648_1650delp.550_550del
NM_001281494.1c.1648_1650delp.550_550del

Frequency in gnomAD

GenomeExome
MAX0.00003608
AFR0
AMR0
ASJ0
EAS0
FIN0
NFE0.00003608
SAS0.00003254

ClinVar

IDPhenotypeEffect
RCV000656896.1not providedVUS
RCV000226221.4Hereditary nonpolyposis colon cancerVUS
RCV000132477.6Hereditary cancer-predisposing syndromeVUS
RCV000202234.2not specifiedVUS

HGMD

IDPhenotypeEffect
CD141647Colorectal cancer, non-polyposisDM