Details for MKS1:p.Gly255Arg

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
5629043858213077
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MKS1
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Gly255Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00013220.00.00.00.00055620.01.765e-050.00.0006862

ESP
AAEA
0.00.0001207
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.50614Polymorphism
DBSNP ID rs201237547
1 combination linked to MKS1:p.Gly255Arg OLI686
1 disease linked to MKS1:p.Gly255Arg Holoprosencephaly
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