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Details for NRP2:c.2062C>T, p.Arg688Trp

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
206628415	205763691

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2062C>T

PROTEIN CHANGE

p.Arg688Trp

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
4.011e-06	0.0	0.0	0.0	0.0	4.62e-05	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.830779	Polymorphism

DBSNP ID

1 combination linked to NRP2:c.2062C>T, p.Arg688Trp

1 disease linked to NRP2:c.2062C>T, p.Arg688Trp

Kallmann syndrome

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