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Details for ADAMTS4:c.803G>A, p.Arg268Gln

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
161166501	161196711

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.803G>A

PROTEIN CHANGE

p.Arg268Gln

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
3.983e-06	0.0	0.0	0.0	0.0	0.0	8.798e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.220162	Polymorphism

DBSNP ID

1 combination linked to ADAMTS4:c.803G>A, p.Arg268Gln

1 disease linked to ADAMTS4:c.803G>A, p.Arg268Gln

Primary ovarian failure

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