ClinVar

NM_006502.3(POLH):c.134G>A (p.Gly45Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43582453 (on Assembly GRCh38)
• Chr6: 43550190 (on Assembly GRCh37)

Preferred name:

NM_006502.3(POLH):c.134G>A (p.Gly45Asp)

HGVS:

• NC_000006.12:g.43582453G>A
• NG_009252.1:g.11313G>A
• NG_028283.4:g.70366G>A
• NM_001291969.2:c.-17-554G>A
• NM_001291970.2:c.134G>A
• NM_006502.3:c.134G>AMANE SELECT
• NP_001278899.1:p.Gly45Asp
• NP_006493.1:p.Gly45Asp
• NP_006493.1:p.Gly45Asp
• LRG_470t1:c.134G>A
• LRG_470:g.11313G>A
• LRG_470p1:p.Gly45Asp
• NC_000006.11:g.43550190G>A
• NM_006502.2:c.134G>A

This HGVS expression did not pass validation

Protein change:

G45D

Links:

dbSNP: rs2127773221

NCBI 1000 Genomes Browser:

rs2127773221

Molecular consequence:

• NM_001291969.2:c.-17-554G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001291970.2:c.134G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006502.3:c.134G>A - missense variant - [Sequence Ontology: SO:0001583]