ClinVar

NM_005006.7(NDUFS1):c.826C>T (p.Arg276Cys)

Gene:

NDUFS1:NADH:ubiquinone oxidoreductase core subunit S1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.3

Genomic location:

• Chr2: 206144938 (on Assembly GRCh38)
• Chr2: 207009662 (on Assembly GRCh37)

Preferred name:

NM_005006.7(NDUFS1):c.826C>T (p.Arg276Cys)

HGVS:

• NC_000002.12:g.206144938G>A
• NG_009248.1:g.19526C>T
• NM_001199981.2:c.718C>T
• NM_001199982.2:c.493C>T
• NM_001199983.2:c.655C>T
• NM_001199984.2:c.868C>T
• NM_005006.5:c.826C>T
• NM_005006.7:c.826C>TMANE SELECT
• NP_001186910.1:p.Arg240Cys
• NP_001186911.1:p.Arg165Cys
• NP_001186912.1:p.Arg219Cys
• NP_001186913.1:p.Arg290Cys
• NP_004997.4:p.Arg276Cys
• NC_000002.11:g.207009662G>A
• NM_005006.6:c.826C>T

This HGVS expression did not pass validation

Protein change:

R165C

Links:

dbSNP: rs142941808

NCBI 1000 Genomes Browser:

rs142941808

Molecular consequence:

• NM_001199981.2:c.718C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199982.2:c.493C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199983.2:c.655C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199984.2:c.868C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005006.7:c.826C>T - missense variant - [Sequence Ontology: SO:0001583]