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Details for PLXNA1:c.1606G>A, p.Val536Ile

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
126723541	127004698

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1606G>A

PROTEIN CHANGE

p.Val536Ile

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.995225	Polymorphism

DBSNP ID

2 combinations linked to PLXNA1:c.1606G>A, p.Val536Ile

1 disease linked to PLXNA1:c.1606G>A, p.Val536Ile

Congenital hypogonadotropic hypogonadism

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