Details for SCRIB:c.2407G>A, p.Ala803Thr

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
144887545143805375
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SCRIB
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_015356.4
CDNA CHANGE c.2407G>A
PROTEIN CHANGE p.Ala803Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.313e-050.00.00.00012580.00.01.599e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.034496Polymorphism
DBSNP ID rs900125584
1 combination linked to SCRIB:c.2407G>A, p.Ala803Thr OLI723
1 disease linked to SCRIB:c.2407G>A, p.Ala803Thr Isolated anencephaly
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