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Details for PLXNA1:c.2507G>A, p.Arg836His

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
126733121	127014278

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2507G>A

PROTEIN CHANGE

p.Arg836His

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
7.183e-05	0.0	0.0	0.0008789	0.0	6.784e-05	6.567e-05	0.0	0.0

ESP
AA	EA
0.0	0.0001176

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.844216	Polymorphism

DBSNP ID

1 combination linked to PLXNA1:c.2507G>A, p.Arg836His

1 disease linked to PLXNA1:c.2507G>A, p.Arg836His

Kallmann syndrome

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