ClinVar

NM_002691.4(POLD1):c.724G>A (p.Ala242Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 50402339 (on Assembly GRCh38)
• Chr19: 50905596 (on Assembly GRCh37)

Preferred name:

NM_002691.4(POLD1):c.724G>A (p.Ala242Thr)

HGVS:

• NC_000019.10:g.50402339G>A
• NG_033800.1:g.23017G>A
• NM_001256849.1:c.724G>A
• NM_001308632.1:c.724G>A
• NM_002691.4:c.724G>AMANE SELECT
• NP_001243778.1:p.Ala242Thr
• NP_001295561.1:p.Ala242Thr
• NP_002682.2:p.Ala242Thr
• LRG_785t1:c.724G>A
• LRG_785t2:c.724G>A
• LRG_785:g.23017G>A
• LRG_785p1:p.Ala242Thr
• LRG_785p2:p.Ala242Thr
• NC_000019.9:g.50905596G>A
• NM_002691.3:c.724G>A
• NR_046402.2:n.769G>A

This HGVS expression did not pass validation

Protein change:

A242T

Links:

dbSNP: rs910905700

NCBI 1000 Genomes Browser:

rs910905700

Molecular consequence:

• NM_001256849.1:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308632.1:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002691.4:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_046402.2:n.769G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]