ClinVar

NM_002693.3(POLG):c.1580A>T (p.Gln527Leu)

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: 89326917 (on Assembly GRCh38)
• Chr15: 89870148 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.1580A>T (p.Gln527Leu)

HGVS:

• NC_000015.10:g.89326917T>A
• NG_008218.2:g.12879A>T
• NM_001126131.2:c.1580A>T
• NM_002693.3:c.1580A>TMANE SELECT
• NP_001119603.1:p.Gln527Leu
• NP_002684.1:p.Gln527Leu
• LRG_765:g.12879A>T
• NC_000015.9:g.89870148T>A

This HGVS expression did not pass validation

Protein change:

Q527L

Links:

dbSNP: rs1567191079

NCBI 1000 Genomes Browser:

rs1567191079

Molecular consequence:

• NM_001126131.2:c.1580A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002693.3:c.1580A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1