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Details for DAPK1:c.3490G>A, p.Asp1164Asn

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
90321476	87706561

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3490G>A

PROTEIN CHANGE

p.Asp1164Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
4.013e-06	0.0	0.0	0.0	0.0	0.0	0.0	0.0001653	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.307763	Polymorphism

DBSNP ID

1 combination linked to DAPK1:c.3490G>A, p.Asp1164Asn

1 disease linked to DAPK1:c.3490G>A, p.Asp1164Asn

Disorder of sex development

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