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Details for PLXND1:c.3233G>A, p.Arg1078His

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
129290532	129571689

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3233G>A

PROTEIN CHANGE

p.Arg1078His

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
0.0004384	0.0001236	0.0001736	0.0	0.0	0.0006008	0.0007498	0.0006525	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.430024	Polymorphism

DBSNP ID

1 combination linked to PLXND1:c.3233G>A, p.Arg1078His

1 disease linked to PLXND1:c.3233G>A, p.Arg1078His

Familial bicuspid aortic valve

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