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Details for PLXNA1:c.1582C>T, p.Arg528Trp

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
126723517	127004674

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1582C>T

PROTEIN CHANGE

p.Arg528Trp

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
9.373e-06	0.0	0.0	0.0	0.0	0.0	1.059e-05	0.0001841	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.455952	Polymorphism

DBSNP ID

1 combination linked to PLXNA1:c.1582C>T, p.Arg528Trp

1 disease linked to PLXNA1:c.1582C>T, p.Arg528Trp

Kallmann syndrome

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