ClinVar

NM_002693.3(POLG):c.2265+6T>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89323398 (on Assembly GRCh38)
• Chr15: 89866629 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.2265+6T>A

HGVS:

• NC_000015.10:g.89323398A>T
• NG_008218.2:g.16398T>A
• NM_001126131.2:c.2265+6T>A
• NM_002693.3:c.2265+6T>AMANE SELECT
• LRG_765t1:c.2265+6T>A
• LRG_765:g.16398T>A
• NC_000015.9:g.89866629A>T
• NM_002693.2:c.2265+6T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs746650160

NCBI 1000 Genomes Browser:

rs746650160

Molecular consequence:

• NM_001126131.2:c.2265+6T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_002693.3:c.2265+6T>A - intron variant - [Sequence Ontology: SO:0001627]