Details for SALL4:c.2260G>A, p.Val754Met

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
5040676251790223
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SALL4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_020436.4
CDNA CHANGE c.2260G>A
PROTEIN CHANGE p.Val754Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00010750.00018475.785e-050.00.00.00.00019370.00.0

ESP
AAEA
0.00.0003488
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.843521Polymorphism
DBSNP ID rs199607966
2 combinations linked to SALL4:c.2260G>A, p.Val754Met OLI705; OLI718
1 disease linked to SALL4:c.2260G>A, p.Val754Met Isolated anencephaly
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