ClinVar

NM_002691.4(POLD1):c.2700C>T (p.His900=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 50415573 (on Assembly GRCh38)
• Chr19: 50918830 (on Assembly GRCh37)

Preferred name:

NM_002691.4(POLD1):c.2700C>T (p.His900=)

HGVS:

• NC_000019.10:g.50415573C>T
• NG_033800.1:g.36251C>T
• NM_001256849.1:c.2700C>T
• NM_001308632.1:c.2778C>T
• NM_002691.4:c.2700C>TMANE SELECT
• NP_001243778.1:p.His900=
• NP_001295561.1:p.His926=
• NP_002682.2:p.His900=
• LRG_785t1:c.2700C>T
• LRG_785t2:c.2778C>T
• LRG_785:g.36251C>T
• LRG_785p1:p.His900=
• LRG_785p2:p.His926=
• NC_000019.9:g.50918830C>T
• NM_002691.2:c.2700C>T
• NM_002691.3:c.2700C>T
• NR_046402.2:n.2745C>T
• p.His900His

This HGVS expression did not pass validation

Links:

dbSNP: rs769965495

NCBI 1000 Genomes Browser:

rs769965495

Molecular consequence:

• NR_046402.2:n.2745C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001256849.1:c.2700C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001308632.1:c.2778C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002691.4:c.2700C>T - synonymous variant - [Sequence Ontology: SO:0001819]