Details for SNX13:c.1142A>G, p.Asn381Ser

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
1788524117845618
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE SNX13
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_001350862.2
CDNA CHANGE c.1142A>G
PROTEIN CHANGE p.Asn381Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
9.526e-050.0001389.501e-050.00.04.769e-050.00015230.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.997208Polymorphism
DBSNP ID rs555475594
1 combination linked to SNX13:c.1142A>G, p.Asn381Ser OLI758
1 disease linked to SNX13:c.1142A>G, p.Asn381Ser Isolated anencephaly
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