Details for STK36:p.Arg497Gly

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
219553528218688805
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE STK36
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg497Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00061340.00018470.00054960.00019860.00.00013870.0009170.00065270.0006208

ESP
AAEA
0.00.0004651
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.15025Polymorphism
DBSNP ID rs146493276
1 combination linked to STK36:p.Arg497Gly OLI683
1 disease linked to STK36:p.Arg497Gly Holoprosencephaly
Found any issues with the data on this page? Report this entry.