Details for COL2A1:c.402G>A, p.Met134Ile

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
4839033147996548
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL2A1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_033150.3
CDNA CHANGE c.402G>A
PROTEIN CHANGE p.Met134Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging5.289699Disease causing
DBSNP ID NA
1 combination linked to COL2A1:c.402G>A, p.Met134Ile OLI1678
1 disease linked to COL2A1:c.402G>A, p.Met134Ile Non-Syndromic genetic keratoconus
Found any issues with the data on this page? Report this entry.