ClinVar

NM_006502.3(POLH):c.1746G>A (p.Ser582=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43614161 (on Assembly GRCh38)
• Chr6: 43581898 (on Assembly GRCh37)

Preferred name:

NM_006502.3(POLH):c.1746G>A (p.Ser582=)

HGVS:

• NC_000006.12:g.43614161G>A
• NG_009252.1:g.43021G>A
• NG_028283.4:g.102074G>A
• NM_001291969.2:c.1374G>A
• NM_001291970.2:c.*430G>A
• NM_006502.3:c.1746G>AMANE SELECT
• NP_001278898.1:p.Ser458=
• NP_006493.1:p.Ser582=
• NP_006493.1:p.Ser582=
• LRG_470t1:c.1746G>A
• LRG_470:g.43021G>A
• LRG_470p1:p.Ser582=
• NC_000006.11:g.43581898G>A
• NM_006502.2:c.1746G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001291970.2:c.*430G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001291969.2:c.1374G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006502.3:c.1746G>A - synonymous variant - [Sequence Ontology: SO:0001819]