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Details for IMPG2:c.3688G>T, p.Ala1230Ser

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
100947666	101228822

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3688G>T

PROTEIN CHANGE

p.Ala1230Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
7.561e-05	0.0	0.0002602	0.0	0.0	0.0	7.043e-05	0.0003262	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.219537	Polymorphism

DBSNP ID

1 combination linked to IMPG2:c.3688G>T, p.Ala1230Ser

1 disease linked to IMPG2:c.3688G>T, p.Ala1230Ser

Non-Syndromic genetic keratoconus

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