Details for NR0B1:c.443G>A, p.Ser148Asn

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
3032703830308921
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NR0B1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.443G>A
PROTEIN CHANGE p.Ser148Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.946151Polymorphism
DBSNP ID NA
1 combination linked to NR0B1:c.443G>A, p.Ser148Asn OLI1171
1 disease linked to NR0B1:c.443G>A, p.Ser148Asn Kallmann syndrome
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