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Details for WNT9B:c.6dupC, p.Arg2fsTer55

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
44929009	46851643

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

GC

TRANSCRIPT

CDNA CHANGE

c.6dupC

PROTEIN CHANGE

p.Arg2fsTer55

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.064084	Disease causing

DBSNP ID

1 combination linked to WNT9B:c.6dupC, p.Arg2fsTer55

1 disease linked to WNT9B:c.6dupC, p.Arg2fsTer55

Müllerian aplasia

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