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Details for TSPAN12:c.194C>T, p.Pro65Leu

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
120478922	120838868

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.194C>T

PROTEIN CHANGE

p.Pro65Leu

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
7.961e-06	0.0	0.0	0.0	0.0	0.0	1.761e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.665871	Disease causing

DBSNP ID

1 combination linked to TSPAN12:c.194C>T, p.Pro65Leu

1 disease linked to TSPAN12:c.194C>T, p.Pro65Leu

Familial exudative vitreoretinopathy

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