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Details for DACT1:c.1890G>T, p.Lys630Asn

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
59113231	58646513

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1890G>T

PROTEIN CHANGE

p.Lys630Asn

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
0.0004716	0.0002018	0.0006384	0.0	0.0	0.0003133	0.0007705	0.0	8.814e-05

ESP
AA	EA
0.0004615	0.0003524

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	1.218551	Polymorphism

DBSNP ID

1 combination linked to DACT1:c.1890G>T, p.Lys630Asn

1 disease linked to DACT1:c.1890G>T, p.Lys630Asn

Isolated anencephaly

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