ClinVar

NM_002693.3(POLG):c.678G>C (p.Gln226His)

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: 89330258 (on Assembly GRCh38)
• Chr15: 89873489 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.678G>C (p.Gln226His)

Other names:

p.Q226H:CAG>CAC

HGVS:

• NC_000015.10:g.89330258C>G
• NG_008218.2:g.9538G>C
• NM_001126131.2:c.678G>C
• NM_002693.3:c.678G>CMANE SELECT
• NP_001119603.1:p.Gln226His
• NP_002684.1:p.Gln226His
• NP_002684.1:p.Gln226His
• LRG_765t1:c.678G>C
• LRG_765:g.9538G>C
• LRG_765p1:p.Gln226His
• NC_000015.9:g.89873489C>G
• NM_002693.2:c.678G>C

This HGVS expression did not pass validation

Protein change:

Q226H

Links:

dbSNP: rs147282197

Molecular consequence:

• NM_001126131.2:c.678G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002693.3:c.678G>C - missense variant - [Sequence Ontology: SO:0001583]