ClinVar

NM_002691.4(POLD1):c.1495-109A>C

Gene:

POLD1:DNA polymerase delta 1, catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 50406874 (on Assembly GRCh38)
• Chr19: 50910131 (on Assembly GRCh37)

Preferred name:

NM_002691.4(POLD1):c.1495-109A>C

HGVS:

• NC_000019.10:g.50406874A>C
• NG_033800.1:g.27552A>C
• NM_001256849.1:c.1495-109A>C
• NM_001308632.1:c.1495-109A>C
• NM_002691.4:c.1495-109A>CMANE SELECT
• LRG_785t1:c.1495-109A>C
• LRG_785t2:c.1495-109A>C
• LRG_785:g.27552A>C
• NC_000019.9:g.50910131A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs3219395

NCBI 1000 Genomes Browser:

rs3219395

Molecular consequence:

• NM_001256849.1:c.1495-109A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308632.1:c.1495-109A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_002691.4:c.1495-109A>C - intron variant - [Sequence Ontology: SO:0001627]