ClinVar

NM_006502.3(POLH):c.210G>T (p.Lys70Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 43583079 (on Assembly GRCh38)
• Chr6: 43550816 (on Assembly GRCh37)

Preferred name:

NM_006502.3(POLH):c.210G>T (p.Lys70Asn)

HGVS:

• NC_000006.12:g.43583079G>T
• NG_009252.1:g.11939G>T
• NG_028283.4:g.70992G>T
• NM_001291969.2:c.56G>T
• NM_001291970.2:c.210G>T
• NM_006502.3:c.210G>TMANE SELECT
• NP_001278898.1:p.Ser19Ile
• NP_001278899.1:p.Lys70Asn
• NP_006493.1:p.Lys70Asn
• NP_006493.1:p.Lys70Asn
• LRG_470t1:c.210G>T
• LRG_470:g.11939G>T
• LRG_470p1:p.Lys70Asn
• NC_000006.11:g.43550816G>T
• NM_006502.2:c.210G>T

This HGVS expression did not pass validation

Protein change:

K70N

Links:

dbSNP: rs149295738

NCBI 1000 Genomes Browser:

rs149295738

Molecular consequence:

• NM_001291969.2:c.56G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291970.2:c.210G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006502.3:c.210G>T - missense variant - [Sequence Ontology: SO:0001583]