ClinVar

NM_002693.3(POLG):c.869G>A (p.Arg290His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89329097 (on Assembly GRCh38)
• Chr15: 89872328 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.869G>A (p.Arg290His)

HGVS:

• NC_000015.10:g.89329097C>T
• NG_008218.2:g.10699G>A
• NM_001126131.2:c.869G>A
• NM_002693.3:c.869G>AMANE SELECT
• NP_001119603.1:p.Arg290His
• NP_002684.1:p.Arg290His
• NP_002684.1:p.Arg290His
• LRG_765t1:c.869G>A
• LRG_765:g.10699G>A
• LRG_765p1:p.Arg290His
• NC_000015.9:g.89872328C>T
• NM_002693.2:c.869G>A

This HGVS expression did not pass validation

Protein change:

R290H

Links:

dbSNP: rs146603953

NCBI 1000 Genomes Browser:

rs146603953

Molecular consequence:

• NM_001126131.2:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002693.3:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]