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Details for PLXNA1:c.859G>A, p.Val287Met

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
126708295	126989452

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.859G>A

PROTEIN CHANGE

p.Val287Met

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
7.958e-06	0.0	0.0	0.0	0.0	0.0	0.0	0.0	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.31948	Polymorphism

DBSNP ID

1 combination linked to PLXNA1:c.859G>A, p.Val287Met

1 disease linked to PLXNA1:c.859G>A, p.Val287Met

Kallmann syndrome

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