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Details for PLEC:c.5801G>A, p.Arg1934His

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
144998707	143924539

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.5801G>A

PROTEIN CHANGE

p.Arg1934His

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
0.0001499	0.0001665	3.897e-05	0.0	8.999e-05	0.0003299	0.0002868	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.807238	Polymorphism

DBSNP ID

1 combination linked to PLEC:c.5801G>A, p.Arg1934His

1 disease linked to PLEC:c.5801G>A, p.Arg1934His

Primary ovarian failure

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