ClinVar

NM_005138.3(SCO2):c.296T>G (p.Val99Gly)

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: 50524116 (on Assembly GRCh38)
• Chr22: 50962545 (on Assembly GRCh37)

Preferred name:

NM_005138.3(SCO2):c.296T>G (p.Val99Gly)

HGVS:

• NC_000022.11:g.50524116A>C
• NG_011860.1:g.10970T>G
• NG_016235.1:g.7324T>G
• NG_021419.1:g.20901A>C
• NM_001169109.2:c.296T>G
• NM_001169110.1:c.296T>G
• NM_001169111.2:c.296T>G
• NM_001185011.2:c.*741A>C
• NM_005138.3:c.296T>GMANE SELECT
• NM_152299.4:c.*741A>CMANE SELECT
• NP_001162580.1:p.Val99Gly
• NP_001162581.1:p.Val99Gly
• NP_001162582.1:p.Val99Gly
• NP_005129.2:p.Val99Gly
• LRG_727:g.10970T>G
• NC_000022.10:g.50962545A>C

This HGVS expression did not pass validation

Protein change:

V99G

Links:

dbSNP: rs2148671809

NCBI 1000 Genomes Browser:

rs2148671809

Molecular consequence:

• NM_001185011.2:c.*741A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_152299.4:c.*741A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001169109.2:c.296T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001169110.1:c.296T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001169111.2:c.296T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005138.3:c.296T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1