ClinVar

NM_002693.3(POLG):c.54G>C (p.Pro18=)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89333701 (on Assembly GRCh38)
• Chr15: 89876932 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.54G>C (p.Pro18=)

HGVS:

• NC_000015.10:g.89333701C>G
• NG_008218.2:g.6095G>C
• NM_001126131.2:c.54G>C
• NM_002693.3:c.54G>CMANE SELECT
• NP_001119603.1:p.Pro18=
• NP_002684.1:p.Pro18=
• NP_002684.1:p.Pro18=
• LRG_765t1:c.54G>C
• LRG_765:g.6095G>C
• LRG_765p1:p.Pro18=
• NC_000015.9:g.89876932C>G
• NM_002693.2:c.54G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1378670216

NCBI 1000 Genomes Browser:

rs1378670216

Molecular consequence:

• NM_001126131.2:c.54G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002693.3:c.54G>C - synonymous variant - [Sequence Ontology: SO:0001819]