ClinVar

NM_006502.3(POLH):c.33C>T (p.Leu11=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43582352 (on Assembly GRCh38)
• Chr6: 43550089 (on Assembly GRCh37)

Preferred name:

NM_006502.3(POLH):c.33C>T (p.Leu11=)

HGVS:

• NC_000006.12:g.43582352C>T
• NG_009252.1:g.11212C>T
• NG_028283.4:g.70265C>T
• NM_001291969.2:c.-17-655C>T
• NM_001291970.2:c.33C>T
• NM_006502.3:c.33C>TMANE SELECT
• NP_001278899.1:p.Leu11=
• NP_006493.1:p.Leu11=
• NP_006493.1:p.Leu11=
• LRG_470t1:c.33C>T
• LRG_470:g.11212C>T
• LRG_470p1:p.Leu11=
• NC_000006.11:g.43550089C>T
• NM_006502.2:c.33C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001291969.2:c.-17-655C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001291970.2:c.33C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006502.3:c.33C>T - synonymous variant - [Sequence Ontology: SO:0001819]