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 MMP1:c.1301G>T, p.Gly434Val

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
102661252	102790521

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1301G>T

PROTEIN CHANGE

p.Gly434Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.744e-05	0.0	3.28e-05	0.0	0.0	0.0	2.883e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	4.007352	Polymorphism

DBSNP ID

1 combination linked to MMP1:c.1301G>T, p.Gly434Val

1 disease linked to MMP1:c.1301G>T, p.Gly434Val

Non-Syndromic genetic keratoconus

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