ClinVar

NM_002693.3(POLG):c.983A>G (p.Gln328Arg)

Gene:

POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89328983 (on Assembly GRCh38)
• Chr15: 89872214 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.983A>G (p.Gln328Arg)

HGVS:

• NC_000015.10:g.89328983T>C
• NG_008218.2:g.10813A>G
• NM_001126131.2:c.983A>G
• NM_002693.3:c.983A>GMANE SELECT
• NP_001119603.1:p.Gln328Arg
• NP_002684.1:p.Gln328Arg
• LRG_765:g.10813A>G
• NC_000015.9:g.89872214T>C

This HGVS expression did not pass validation

Protein change:

Q328R

Links:

dbSNP: rs886043556

NCBI 1000 Genomes Browser:

rs886043556

Molecular consequence:

• NM_001126131.2:c.983A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_002693.3:c.983A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2