ClinVar

NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)

Genes:

POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
POLGARF:POLG alternative reading frame [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89321792 (on Assembly GRCh38)
• Chr15: 89865023 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)

Other names:

p.G848S:GGC>AGC; NM_001126131.1(POLG):c.2542G>A(p.Gly848Ser); NM_002693.2(POLG):c.2542G>A(p.Gly848Ser)

HGVS:

• NC_000015.10:g.89321792C>T
• NG_008218.2:g.18004G>A
• NM_001126131.2:c.2542G>A
• NM_002693.3:c.2542G>AMANE SELECT
• NP_001119603.1:p.Gly848Ser
• NP_002684.1:p.Gly848Ser
• NP_002684.1:p.Gly848Ser
• LRG_765t1:c.2542G>A
• LRG_765:g.18004G>A
• LRG_765p1:p.Gly848Ser
• NC_000015.9:g.89865023C>T
• NM_001126131.1:c.2542G>A
• NM_002693.2:c.2542G>A
• P54098:p.Gly848Ser

This HGVS expression did not pass validation

Protein change:

G848S; GLY848SER

Links:

UniProtKB: P54098#VAR_023675; OMIM: 174763.0006; dbSNP: rs113994098

NCBI 1000 Genomes Browser:

rs113994098

Molecular consequence:

• NM_001126131.2:c.2542G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002693.3:c.2542G>A - missense variant - [Sequence Ontology: SO:0001583]