ClinVar

NM_002693.3(POLG):c.1024-1G>C

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: 89328832 (on Assembly GRCh38)
• Chr15: 89872063 (on Assembly GRCh37)

Preferred name:

NM_002693.3(POLG):c.1024-1G>C

HGVS:

• NC_000015.10:g.89328832C>G
• NG_008218.2:g.10964G>C
• NM_001126131.2:c.1024-1G>C
• NM_002693.3:c.1024-1G>CMANE SELECT
• LRG_765:g.10964G>C
• NC_000015.9:g.89872063C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1567192203

NCBI 1000 Genomes Browser:

rs1567192203

Molecular consequence:

• NM_001126131.2:c.1024-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_002693.3:c.1024-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

1