Details for BMP4:p.Asn150Lys

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
5441752753950809
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BMP4
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Asn150Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.417997Disease causing
DBSNP ID rs767216159
1 combination linked to BMP4:p.Asn150Lys OLI639
1 disease linked to BMP4:p.Asn150Lys Renal dysplasia

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