chr2:48027675 CAAG>C
Annotations
GeneMSH6
TranscriptNM_000179.2
cDNAc.2554_2556del
Proteinp.852_852del
Functionin-frame del
Localizationexon
hg19chr2:48027675 CAAG>C
dbSNPrs587782858
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
MAX–0.00003608
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00003608
SAS–0.00003254
ClinVar
IDPhenotypeEffect
HGMD
IDPhenotypeEffect
CD141647Colorectal cancer, non-polyposisDM