chr2:48033789 C>T
Annotations
GeneMSH6
TranscriptNM_000179.2
cDNAc.4000C>T
Proteinp.R1334W
Functionmissense
Localizationexon
hg19chr2:48033789 C>T
dbSNPrs773763465
Synonyms
TranscriptcDNAProtein
NM_001281492.1c.3610C>Tp.R1204W
NM_001281493.1c.3094C>Tp.R1032W
NM_001281494.1c.3094C>Tp.R1032W
Frequency in gnomAD
GenomeExome
MAX0.00010.0001
AFR0.00010.0001
AMR00.00009003
ASJ00
EAS00
FIN00.00005029
NFE0.000066780.00001839
SAS–0.00003271
ClinVar
IDPhenotypeEffect