Details for SFRP1:c.664G>A, p.Asp222Asn

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
4112296741265448
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SFRP1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_003012.4
CDNA CHANGE c.664G>A
PROTEIN CHANGE p.Asp222Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.634e-050.00018620.00.00.00.08.945e-060.00.0

ESP
AAEA
0.00090790.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.270664Polymorphism
DBSNP ID rs140852585
1 combination linked to SFRP1:c.664G>A, p.Asp222Asn OLI745
1 disease linked to SFRP1:c.664G>A, p.Asp222Asn Isolated anencephaly
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