Details for MEFV:c.1777G>A, p.Ala593Thr

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
32938753243875
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MEFV
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000243.3
CDNA CHANGE c.1777G>A
PROTEIN CHANGE p.Ala593Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.984e-060.00.00.00.04.622e-050.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.023124Polymorphism
DBSNP ID rs375665850
1 combination linked to MEFV:c.1777G>A, p.Ala593Thr OLI1138
1 disease linked to MEFV:c.1777G>A, p.Ala593Thr Mayer-Rokitansky-Küster-Hauser syndrome
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