Details for IRX5:c.707C>T, p.Pro236Leu

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5496704054933128
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE IRX5
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_005853.5
CDNA CHANGE c.707C>T
PROTEIN CHANGE p.Pro236Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01840.06130.00580.00.0060.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0074340.054350.0084080.0048630.00.00082330.0051850.0081590.00115

ESP
AAEA
0.043720.00421
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.867149Polymorphism
DBSNP ID rs115549200
1 combination linked to IRX5:c.707C>T, p.Pro236Leu OLI601
1 disease linked to IRX5:c.707C>T, p.Pro236Leu Disorder of sex development
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