Details for SALL2:c.499C>A, p.Pro167Thr

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
2199295821524824
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SALL2
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_005407.2
CDNA CHANGE c.499C>A
PROTEIN CHANGE p.Pro167Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.320088Polymorphism
DBSNP ID NA
2 combinations linked to SALL2:c.499C>A, p.Pro167Thr OLI723; OLI732
1 disease linked to SALL2:c.499C>A, p.Pro167Thr Isolated anencephaly
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