ClinVar

NM_002691.4(POLD1):c.317-4A>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 50401774 (on Assembly GRCh38)
• Chr19: 50905031 (on Assembly GRCh37)

Preferred name:

NM_002691.4(POLD1):c.317-4A>C

HGVS:

• NC_000019.10:g.50401774A>C
• NG_033800.1:g.22452A>C
• NM_001256849.1:c.317-4A>C
• NM_001308632.1:c.317-4A>C
• NM_002691.4:c.317-4A>CMANE SELECT
• LRG_785t1:c.317-4A>C
• LRG_785t2:c.317-4A>C
• LRG_785:g.22452A>C
• NC_000019.9:g.50905031A>C
• NM_002691.3:c.317-4A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs753078201

NCBI 1000 Genomes Browser:

rs753078201

Molecular consequence:

• NM_001256849.1:c.317-4A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308632.1:c.317-4A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_002691.4:c.317-4A>C - intron variant - [Sequence Ontology: SO:0001627]