ClinVar

NM_005138.3(SCO2):c.541G>A (p.Val181Ile)

Genes:

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: 50523871 (on Assembly GRCh38)
• Chr22: 50962300 (on Assembly GRCh37)

Preferred name:

NM_005138.3(SCO2):c.541G>A (p.Val181Ile)

HGVS:

• NC_000022.11:g.50523871C>T
• NG_011860.1:g.11215G>A
• NG_016235.1:g.7569G>A
• NG_021419.1:g.20656C>T
• NM_001169109.2:c.541G>A
• NM_001169110.1:c.541G>A
• NM_001169111.2:c.541G>A
• NM_001185011.2:c.*496C>T
• NM_005138.3:c.541G>AMANE SELECT
• NM_152299.4:c.*496C>TMANE SELECT
• NP_001162580.1:p.Val181Ile
• NP_001162581.1:p.Val181Ile
• NP_001162582.1:p.Val181Ile
• NP_005129.2:p.Val181Ile
• LRG_727:g.11215G>A
• NC_000022.10:g.50962300C>T
• NC_000022.10:g.50962300C>T
• NM_005138.2:c.541G>A

This HGVS expression did not pass validation

Protein change:

V181I

Links:

dbSNP: rs147624681

NCBI 1000 Genomes Browser:

rs147624681

Molecular consequence:

• NM_001185011.2:c.*496C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_152299.4:c.*496C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001169109.2:c.541G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001169110.1:c.541G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001169111.2:c.541G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005138.3:c.541G>A - missense variant - [Sequence Ontology: SO:0001583]