Details for MMP2:c.586G>A, p.Ala196Thr

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5551926755485355
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MMP2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_004530.6
CDNA CHANGE c.586G>A
PROTEIN CHANGE p.Ala196Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.29457Disease causing
DBSNP ID NA
1 combination linked to MMP2:c.586G>A, p.Ala196Thr OLI1673
1 disease linked to MMP2:c.586G>A, p.Ala196Thr Non-Syndromic genetic keratoconus
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