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Details for WNT9A:c.1070G>A, p.Arg357His

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
228109247	227921546

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1070G>A

PROTEIN CHANGE

p.Arg357His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001072	0.000185	0.001072	0.0	0.0001633	0.000557	0.001826	0.0009836	3.276e-05

ESP
AA	EA
0.000227	0.001977

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.895258	Polymorphism

DBSNP ID

2 combinations linked to WNT9A:c.1070G>A, p.Arg357His

2 diseases linked to WNT9A:c.1070G>A, p.Arg357His

Isolated anencephaly; Disorder of sex development

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