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Details for PLXNA1:c.2159G>A, p.Gly720Glu

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
126730847	127012004

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2159G>A

PROTEIN CHANGE

p.Gly720Glu

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
2.786e-05	0.0	0.0	0.0	0.0	0.0	6.165e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.655874	Disease causing

DBSNP ID

1 combination linked to PLXNA1:c.2159G>A, p.Gly720Glu

1 disease linked to PLXNA1:c.2159G>A, p.Gly720Glu

Hypogonadotropic hypogonadism with absent puberty phenotype

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