Details for POLG:c.2542G>A, p.Gly848Ser

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
8986502389321792
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE POLG
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001126131.1
CDNA CHANGE c.2542G>A
PROTEIN CHANGE p.Gly848Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00014726.155e-058.674e-050.00.00.00.00026380.00048890.0

ESP
AAEA
0.00045450.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.908681Disease causing
DBSNP ID rs113994098
1 combination linked to POLG:c.2542G>A, p.Gly848Ser OLI131
1 disease linked to POLG:c.2542G>A, p.Gly848Ser Progressive external ophthalmoplegia
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