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Details for WNT9A:c.998G>A, p.Arg333Gln

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
228109319	227921618

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.998G>A

PROTEIN CHANGE

p.Arg333Gln

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
1.995e-05	0.0	8.681e-05	0.0	5.454e-05	0.0	0.0	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.000917	Polymorphism

DBSNP ID

1 combination linked to WNT9A:c.998G>A, p.Arg333Gln

1 disease linked to WNT9A:c.998G>A, p.Arg333Gln

Isolated anencephaly

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