ClinVar

NM_002691.4(POLD1):c.474del (p.Glu159fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 50402007 (on Assembly GRCh38)
• Chr19: 50905264 (on Assembly GRCh37)

Preferred name:

NM_002691.4(POLD1):c.474del (p.Glu159fs)

HGVS:

• NC_000019.10:g.50402009del
• NG_033800.1:g.22687del
• NM_001256849.1:c.474del
• NM_001308632.1:c.474del
• NM_002691.4:c.474delMANE SELECT
• NP_001243778.1:p.Glu159fs
• NP_001295561.1:p.Glu159fs
• NP_002682.2:p.Glu159fs
• LRG_785t1:c.474del
• LRG_785t2:c.474del
• LRG_785:g.22687del
• LRG_785p1:p.Glu159fs
• LRG_785p2:p.Glu159fs
• NC_000019.9:g.50905264del
• NC_000019.9:g.50905266del
• NR_046402.2:n.519del

This HGVS expression did not pass validation

Protein change:

E159fs

Links:

dbSNP: rs752495905

NCBI 1000 Genomes Browser:

rs752495905

Molecular consequence:

• NM_001256849.1:c.474del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001308632.1:c.474del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_002691.4:c.474del - frameshift variant - [Sequence Ontology: SO:0001589]
• NR_046402.2:n.519del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1