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Details for NRP1:c.2222G>A, p.Arg741His

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
33475257	33186329

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2222G>A

PROTEIN CHANGE

p.Arg741His

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
3.98e-05	6.152e-05	0.0	9.927e-05	0.0	0.0	6.162e-05	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.614932	Polymorphism

DBSNP ID

1 combination linked to NRP1:c.2222G>A, p.Arg741His

1 disease linked to NRP1:c.2222G>A, p.Arg741His

Congenital hypogonadotropic hypogonadism

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