ClinVar

NM_006502.3(POLH):c.168A>T (p.Ala56=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43583037 (on Assembly GRCh38)
• Chr6: 43550774 (on Assembly GRCh37)

Preferred name:

NM_006502.3(POLH):c.168A>T (p.Ala56=)

HGVS:

• NC_000006.12:g.43583037A>T
• NG_009252.1:g.11897A>T
• NG_028283.4:g.70950A>T
• NM_001291969.2:c.14A>T
• NM_001291970.2:c.168A>T
• NM_006502.3:c.168A>TMANE SELECT
• NP_001278898.1:p.His5Leu
• NP_001278899.1:p.Ala56=
• NP_006493.1:p.Ala56=
• NP_006493.1:p.Ala56=
• LRG_470t1:c.168A>T
• LRG_470:g.11897A>T
• LRG_470p1:p.Ala56=
• NC_000006.11:g.43550774A>T
• NM_006502.2:c.168A>T

This HGVS expression did not pass validation

Protein change:

H5L

Molecular consequence:

• NM_001291969.2:c.14A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291970.2:c.168A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006502.3:c.168A>T - synonymous variant - [Sequence Ontology: SO:0001819]