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Details for PLXNA1:c.1765G>A, p.Val589Met

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
126723954	127005111

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1765G>A

PROTEIN CHANGE

p.Val589Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
8.013e-06	0.0	0.0	0.0	0.0	0.0	8.902e-06	0.0	3.268e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.561526	Polymorphism

DBSNP ID

1 combination linked to PLXNA1:c.1765G>A, p.Val589Met

1 disease linked to PLXNA1:c.1765G>A, p.Val589Met

Hypogonadotropic hypogonadism with absent puberty phenotype

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