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Details for PLXNA1:p.Ala1210Val

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
126736704	127017861

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ala1210Val

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
2.854e-05	0.0	0.0	0.0	0.0	0.0	3.681e-05	0.0	9.823e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.305097	Polymorphism

DBSNP ID

1 combination linked to PLXNA1:p.Ala1210Val

1 disease linked to PLXNA1:p.Ala1210Val

Kallmann syndrome

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