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Details for PLXNA3:c.5570G>A, p.Arg1857Gln

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
153700982	154472639

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.5570G>A

PROTEIN CHANGE

p.Arg1857Gln

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
0.0001364	7.6e-05	0.0	0.0	0.0	0.0	0.0002567	0.0002208	0.0001048

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.415747	Polymorphism

DBSNP ID

1 combination linked to PLXNA3:c.5570G>A, p.Arg1857Gln

1 disease linked to PLXNA3:c.5570G>A, p.Arg1857Gln

46,XY disorder of sex development

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