ClinVar

NM_022836.4(DCLRE1B):c.807C>T (p.His269=)

Gene:

DCLRE1B:DNA cross-link repair 1B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.2

Genomic location:

• Chr1: 113911399 (on Assembly GRCh38)
• Chr1: 114454021 (on Assembly GRCh37)

Preferred name:

NM_022836.4(DCLRE1B):c.807C>T (p.His269=)

HGVS:

• NC_000001.11:g.113911399C>T
• NG_057565.1:g.11781C>T
• NM_001319946.2:c.429C>T
• NM_001319947.2:c.429C>T
• NM_001363690.2:c.807C>T
• NM_001363691.2:c.429C>T
• NM_022836.4:c.807C>TMANE SELECT
• NP_001306875.1:p.His143=
• NP_001306876.1:p.His143=
• NP_001350619.1:p.His269=
• NP_001350620.1:p.His143=
• NP_073747.1:p.His269=
• LRG_1219t1:c.807C>T
• LRG_1219:g.11781C>T
• LRG_1219p1:p.His269=
• NC_000001.10:g.114454021C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001319946.2:c.429C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319947.2:c.429C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363690.2:c.807C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363691.2:c.429C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022836.4:c.807C>T - synonymous variant - [Sequence Ontology: SO:0001819]