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 INPPL1:c.3584G>T, p.Gly1195Val

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
71949117	72238073

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3584G>T

PROTEIN CHANGE

p.Gly1195Val

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
0.0001993	0.0	0.000615	0.0	0.0	5.316e-05	0.0002194	0.0004073	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.701797	Polymorphism

DBSNP ID

1 combination linked to INPPL1:c.3584G>T, p.Gly1195Val

1 disease linked to INPPL1:c.3584G>T, p.Gly1195Val

Non-Syndromic genetic keratoconus

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