Details for RXRG:c.665G>T, p.Ser222Ile

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
165380304165411067
VARIANT EFFECT None
ANNOTATION FLAG None
GENE RXRG
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.665G>T
PROTEIN CHANGE p.Ser222Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.979912Polymorphism
DBSNP ID NA
1 combination linked to RXRG:c.665G>T, p.Ser222Ile OLI919
1 disease linked to RXRG:c.665G>T, p.Ser222Ile Isolated spina bifida

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