Details for SFRP5:c.307G>A, p.Asp103Asn

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
9953128497771527
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SFRP5
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_003015.3
CDNA CHANGE c.307G>A
PROTEIN CHANGE p.Asp103Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00.00140.00.0040.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.003950.0010820.0035220.0023310.00.00055940.0068870.0061560.0002298

ESP
AAEA
0.0020440.007442
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.570226Polymorphism
DBSNP ID rs143647630
1 combination linked to SFRP5:c.307G>A, p.Asp103Asn OLI708
1 disease linked to SFRP5:c.307G>A, p.Asp103Asn Isolated anencephaly
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