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Details for VEGFB:c.8C>T, p.Pro3Leu

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
64002313	64234841

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.8C>T

PROTEIN CHANGE

p.Pro3Leu

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
0.0001353	0.00463	0.0002133	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.543398	Polymorphism

DBSNP ID

1 combination linked to VEGFB:c.8C>T, p.Pro3Leu

1 disease linked to VEGFB:c.8C>T, p.Pro3Leu

46,XY disorder of sex development

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