ClinVar

NM_005138.3(SCO2):c.776C>T (p.Ala259Val)

Genes:

TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]
NCAPH2:non-SMC condensin II complex subunit H2 [Gene - OMIM - HGNC]
SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50523636 (on Assembly GRCh38)
• Chr22: 50962065 (on Assembly GRCh37)

Preferred name:

NM_005138.3(SCO2):c.776C>T (p.Ala259Val)

Other names:

p.A259V:GCG>GTG

HGVS:

• NC_000022.11:g.50523636G>A
• NG_016235.1:g.7804C>T
• NG_021419.1:g.20421G>A
• NM_001169109.2:c.776C>T
• NM_001169110.1:c.776C>T
• NM_001169111.2:c.776C>T
• NM_001185011.2:c.*261G>A
• NM_005138.3:c.776C>TMANE SELECT
• NM_152299.4:c.*261G>AMANE SELECT
• NP_001162580.1:p.Ala259Val
• NP_001162581.1:p.Ala259Val
• NP_001162582.1:p.Ala259Val
• NP_005129.2:p.Ala259Val
• NP_005129.2:p.Ala259Val
• NC_000022.10:g.50962065G>A
• NM_005138.2:c.776C>T
• O43819:p.Ala259Val
• p.A259V

This HGVS expression did not pass validation

Protein change:

A259V

Links:

UniProtKB: O43819#VAR_051912; dbSNP: rs8139305

NCBI 1000 Genomes Browser:

rs8139305

Molecular consequence:

• NM_001185011.2:c.*261G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_152299.4:c.*261G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001169109.2:c.776C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001169110.1:c.776C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001169111.2:c.776C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005138.3:c.776C>T - missense variant - [Sequence Ontology: SO:0001583]