ClinVar

NM_002691.4(POLD1):c.1552C>A (p.Leu518Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 50407040 (on Assembly GRCh38)
• Chr19: 50910297 (on Assembly GRCh37)

Preferred name:

NM_002691.4(POLD1):c.1552C>A (p.Leu518Met)

HGVS:

• NC_000019.10:g.50407040C>A
• NG_033800.1:g.27718C>A
• NM_001256849.1:c.1552C>A
• NM_001308632.1:c.1552C>A
• NM_002691.4:c.1552C>AMANE SELECT
• NP_001243778.1:p.Leu518Met
• NP_001295561.1:p.Leu518Met
• NP_002682.2:p.Leu518Met
• LRG_785t1:c.1552C>A
• LRG_785t2:c.1552C>A
• LRG_785:g.27718C>A
• LRG_785p1:p.Leu518Met
• LRG_785p2:p.Leu518Met
• NC_000019.9:g.50910297C>A
• NM_002691.2:c.1552C>A
• NM_002691.3:c.1552C>A
• NR_046402.2:n.1597C>A

This HGVS expression did not pass validation

Protein change:

L518M

Links:

dbSNP: rs149043082

NCBI 1000 Genomes Browser:

rs149043082

Molecular consequence:

• NM_001256849.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308632.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002691.4:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_046402.2:n.1597C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1