Details for ALX1:c.191G>T, p.Arg64Leu

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
8567423085280452
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ALX1
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_006982.2
CDNA CHANGE c.191G>T
PROTEIN CHANGE p.Arg64Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00160.00.00430.00.0030.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0043150.0011860.0031550.0018940.00.0024980.0069580.0047490.002157

ESP
AAEA
0.0020430.007095
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.788359Polymorphism
DBSNP ID rs115596276
1 combination linked to ALX1:c.191G>T, p.Arg64Leu OLI718
1 disease linked to ALX1:c.191G>T, p.Arg64Leu Isolated anencephaly
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