ClinVar

NM_006502.3(POLH):c.1833A>G (p.Lys611=)

Genes:

POLH:DNA polymerase eta [Gene - OMIM - HGNC]
POLR1C:RNA polymerase I and III subunit C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43614248 (on Assembly GRCh38)
• Chr6: 43581985 (on Assembly GRCh37)

Preferred name:

NM_006502.3(POLH):c.1833A>G (p.Lys611=)

HGVS:

• NC_000006.12:g.43614248A>G
• NG_009252.1:g.43108A>G
• NG_028283.4:g.102161A>G
• NM_001291969.2:c.1461A>G
• NM_001291970.2:c.*517A>G
• NM_001318876.2:c.945+84977A>G
• NM_006502.3:c.1833A>GMANE SELECT
• NP_001278898.1:p.Lys487=
• NP_006493.1:p.Lys611=
• NP_006493.1:p.Lys611=
• LRG_470t1:c.1833A>G
• LRG_470:g.43108A>G
• LRG_470p1:p.Lys611=
• NC_000006.11:g.43581985A>G
• NM_006502.2:c.1833A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs748367351

NCBI 1000 Genomes Browser:

rs748367351

Molecular consequence:

• NM_001291970.2:c.*517A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001318876.2:c.945+84977A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001291969.2:c.1461A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006502.3:c.1833A>G - synonymous variant - [Sequence Ontology: SO:0001819]