ClinVar

NM_005138.3(SCO2):c.341G>A (p.Arg114His)

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: 50524071 (on Assembly GRCh38)
• Chr22: 50962500 (on Assembly GRCh37)

Preferred name:

NM_005138.3(SCO2):c.341G>A (p.Arg114His)

HGVS:

• NC_000022.11:g.50524071C>T
• NG_011860.1:g.11015G>A
• NG_016235.1:g.7369G>A
• NG_021419.1:g.20856C>T
• NM_001169109.2:c.341G>A
• NM_001169110.1:c.341G>A
• NM_001169111.2:c.341G>A
• NM_001185011.2:c.*696C>T
• NM_005138.3:c.341G>AMANE SELECT
• NM_152299.4:c.*696C>TMANE SELECT
• NP_001162580.1:p.Arg114His
• NP_001162581.1:p.Arg114His
• NP_001162582.1:p.Arg114His
• NP_005129.2:p.Arg114His
• NP_005129.2:p.Arg114His
• LRG_727:g.11015G>A
• NC_000022.10:g.50962500C>T
• NM_005138.2:c.341G>A
• O43819:p.Arg114His

This HGVS expression did not pass validation

Protein change:

R114H; ARG114HIS

Links:

UniProtKB: O43819#VAR_070053; OMIM: 604272.0009; dbSNP: rs145100473

NCBI 1000 Genomes Browser:

rs145100473

Molecular consequence:

• NM_001185011.2:c.*696C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_152299.4:c.*696C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001169109.2:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001169110.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001169111.2:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005138.3:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]