Details for FKBP4:c.1066C>T, p.Leu356Phe

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
29103162801150
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FKBP4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_002014.4
CDNA CHANGE c.1066C>T
PROTEIN CHANGE p.Leu356Phe
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.0030.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
8.008e-050.00.00.00.0010870.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.687239Disease causing
DBSNP ID rs199705099
1 combination linked to FKBP4:c.1066C>T, p.Leu356Phe OLI996
2 diseases linked to FKBP4:c.1066C>T, p.Leu356Phe Androgen insensitivity syndrome; 46,XY disorder of sex development
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