This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for LTBP2:c.1295C>T, p.Pro432Leu

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
75018994	74552291

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1295C>T

PROTEIN CHANGE

p.Pro432Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0	0.0	0.0	0.001	0.0102

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001596	0.000376	0.0004918	0.0	5.445e-05	4.669e-05	0.001029	0.001968	0.008004

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.209539	Polymorphism

DBSNP ID

1 combination linked to LTBP2:c.1295C>T, p.Pro432Leu

1 disease linked to LTBP2:c.1295C>T, p.Pro432Leu

Juvenile glaucoma

Found any issues with the data on this page? Report this entry.