Details for ALX1:c.190C>T, p.Arg64Cys

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
8567422985280451
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ALX1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_006982.2
CDNA CHANGE c.190C>T
PROTEIN CHANGE p.Arg64Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0019920.00043680.0010710.0090690.00.0013420.002780.0021290.0002614

ESP
AAEA
0.00090790.003372
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.95073Polymorphism
DBSNP ID rs145944049
1 combination linked to ALX1:c.190C>T, p.Arg64Cys OLI729
1 disease linked to ALX1:c.190C>T, p.Arg64Cys Isolated anencephaly
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