ClinVar

NM_000107.3(DDB2):c.869C>T (p.Pro290Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 47234923 (on Assembly GRCh38)
• Chr11: 47256474 (on Assembly GRCh37)

Preferred name:

NM_000107.3(DDB2):c.869C>T (p.Pro290Leu)

HGVS:

• NC_000011.10:g.47234923C>T
• NG_009365.1:g.24982C>T
• NM_000107.3:c.869C>TMANE SELECT
• NM_001300734.2:c.457-2914C>T
• NM_001399874.1:c.869C>T
• NM_001399875.1:c.869C>T
• NM_001399876.1:c.457-2914C>T
• NM_001399878.1:c.677C>T
• NP_000098.1:p.Pro290Leu
• NP_001386803.1:p.Pro290Leu
• NP_001386804.1:p.Pro290Leu
• NP_001386807.1:p.Pro226Leu
• LRG_467t1:c.869C>T
• LRG_467:g.24982C>T
• NC_000011.9:g.47256474C>T
• NM_000107.2:c.869C>T

This HGVS expression did not pass validation

Protein change:

P226L

Links:

dbSNP: rs2135512289

NCBI 1000 Genomes Browser:

rs2135512289

Molecular consequence:

• NM_001300734.2:c.457-2914C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001399876.1:c.457-2914C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000107.3:c.869C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001399874.1:c.869C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001399875.1:c.869C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001399878.1:c.677C>T - missense variant - [Sequence Ontology: SO:0001583]