ClinVar

NM_002691.4(POLD1):c.1716G>T (p.Val572=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 50407356 (on Assembly GRCh38)
• Chr19: 50910613 (on Assembly GRCh37)

Preferred name:

NM_002691.4(POLD1):c.1716G>T (p.Val572=)

HGVS:

• NC_000019.10:g.50407356G>T
• NG_033800.1:g.28034G>T
• NM_001256849.1:c.1716G>T
• NM_001308632.1:c.1716G>T
• NM_002691.4:c.1716G>TMANE SELECT
• NP_001243778.1:p.Val572=
• NP_001295561.1:p.Val572=
• NP_002682.2:p.Val572=
• LRG_785t1:c.1716G>T
• LRG_785t2:c.1716G>T
• LRG_785:g.28034G>T
• LRG_785p1:p.Val572=
• LRG_785p2:p.Val572=
• NC_000019.9:g.50910613G>T
• NM_002691.2:c.1716G>T
• NM_002691.3:c.1716G>T
• NR_046402.2:n.1761G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1568628387

NCBI 1000 Genomes Browser:

rs1568628387

Molecular consequence:

• NR_046402.2:n.1761G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001256849.1:c.1716G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001308632.1:c.1716G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002691.4:c.1716G>T - synonymous variant - [Sequence Ontology: SO:0001819]