Details for EML6:c.2752A>G, p.Thr918Ala

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
5512206154894924
VARIANT EFFECT None
ANNOTATION FLAG None
GENE EML6
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_001039753.2
CDNA CHANGE c.2752A>G
PROTEIN CHANGE p.Thr918Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00044710.0001260.00032410.09.174e-050.00047630.00080860.00068210.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.875853Polymorphism
DBSNP ID NA
1 combination linked to EML6:c.2752A>G, p.Thr918Ala OLI1694
1 disease linked to EML6:c.2752A>G, p.Thr918Ala Non-Syndromic genetic keratoconus
Found any issues with the data on this page? Report this entry.