ClinVar

NM_002693.3(POLG):c.695G>A (p.Arg232His)

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: 89330241 (on Assembly GRCh38)
• Chr15: 89873472 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.695G>A (p.Arg232His)

HGVS:

• NC_000015.10:g.89330241C>T
• NG_008218.2:g.9555G>A
• NM_001126131.2:c.695G>A
• NM_002693.3:c.695G>AMANE SELECT
• NP_001119603.1:p.Arg232His
• NP_002684.1:p.Arg232His
• NP_002684.1:p.Arg232His
• LRG_765t1:c.695G>A
• LRG_765:g.9555G>A
• LRG_765p1:p.Arg232His
• NC_000015.9:g.89873472C>T
• NM_002693.2:c.695G>A
• P54098:p.Arg232His

This HGVS expression did not pass validation

Protein change:

R232H

Links:

UniProtKB: P54098#VAR_058871; dbSNP: rs113994093

NCBI 1000 Genomes Browser:

rs113994093

Molecular consequence:

• NM_001126131.2:c.695G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002693.3:c.695G>A - missense variant - [Sequence Ontology: SO:0001583]