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Details for ADAMTS16:c.2459G>A, p.Arg820Gln

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
5239974	5239861

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2459G>A

PROTEIN CHANGE

p.Arg820Gln

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
2.805e-05	0.0001292	0.0	0.0	0.0	0.0	2.649e-05	0.0	6.536e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.436571	Disease causing

DBSNP ID

1 combination linked to ADAMTS16:c.2459G>A, p.Arg820Gln

1 disease linked to ADAMTS16:c.2459G>A, p.Arg820Gln

Primary ovarian failure

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