ClinVar

NM_006502.3(POLH):c.885-14G>A

Gene:

POLH:DNA polymerase eta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43604601 (on Assembly GRCh38)
• Chr6: 43572338 (on Assembly GRCh37)

Preferred name:

NM_006502.3(POLH):c.885-14G>A

HGVS:

• NC_000006.12:g.43604601G>A
• NG_009252.1:g.33461G>A
• NG_028283.4:g.92514G>A
• NM_001291969.2:c.513-14G>A
• NM_001291970.2:c.885-14G>A
• NM_006502.3:c.885-14G>AMANE SELECT
• LRG_470:g.33461G>A
• NC_000006.11:g.43572338G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001291969.2:c.513-14G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001291970.2:c.885-14G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_006502.3:c.885-14G>A - intron variant - [Sequence Ontology: SO:0001627]