Details for AIRE:c.599C>T, p.Pro200Leu

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
4570828844288405
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE AIRE
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000383.3
CDNA CHANGE c.599C>T
PROTEIN CHANGE p.Pro200Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00080.00.00.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00015980.0014240.00.00.00048960.04.426e-050.00016396.534e-05

ESP
AAEA
0.0020440.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.624501Polymorphism
DBSNP ID rs140196414
1 combination linked to AIRE:c.599C>T, p.Pro200Leu OLI025
1 disease linked to AIRE:c.599C>T, p.Pro200Leu Primary hemophagocytic lymphohistiocytosis
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