ClinVar

NM_000107.3(DDB2):c.870T>C (p.Pro290=)

Gene:

DDB2:damage specific DNA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 47234924 (on Assembly GRCh38)
• Chr11: 47256475 (on Assembly GRCh37)

Preferred name:

NM_000107.3(DDB2):c.870T>C (p.Pro290=)

HGVS:

• NC_000011.10:g.47234924T>C
• NG_009365.1:g.24983T>C
• NM_000107.3:c.870T>CMANE SELECT
• NM_001300734.2:c.457-2913T>C
• NM_001399874.1:c.870T>C
• NM_001399875.1:c.870T>C
• NM_001399876.1:c.457-2913T>C
• NM_001399878.1:c.678T>C
• NP_000098.1:p.Pro290=
• NP_000098.1:p.Pro290=
• NP_001386803.1:p.Pro290=
• NP_001386804.1:p.Pro290=
• NP_001386807.1:p.Pro226=
• LRG_467t1:c.870T>C
• LRG_467:g.24983T>C
• LRG_467p1:p.Pro290=
• NC_000011.9:g.47256475T>C
• NM_000107.2:c.870T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs376783024

NCBI 1000 Genomes Browser:

rs376783024

Molecular consequence:

• NM_001300734.2:c.457-2913T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001399876.1:c.457-2913T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000107.3:c.870T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001399874.1:c.870T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001399875.1:c.870T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001399878.1:c.678T>C - synonymous variant - [Sequence Ontology: SO:0001819]