ClinVar

NM_001377299.1(NDUFS2):c.424G>A (p.Val142Met)

Gene:

NDUFS2:NADH:ubiquinone oxidoreductase core subunit S2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161209223 (on Assembly GRCh38)
• Chr1: 161179013 (on Assembly GRCh37)

Preferred name:

NM_001377299.1(NDUFS2):c.424G>A (p.Val142Met)

HGVS:

• NC_000001.11:g.161209223G>A
• NG_013352.1:g.14909G>A
• NM_001166159.2:c.424G>A
• NM_001377298.1:c.424G>A
• NM_001377299.1:c.424G>AMANE SELECT
• NM_001377300.1:c.424G>A
• NM_001377301.1:c.424G>A
• NM_001377302.1:c.424G>A
• NM_004550.5:c.424G>A
• NP_001159631.1:p.Val142Met
• NP_001364227.1:p.Val142Met
• NP_001364228.1:p.Val142Met
• NP_001364229.1:p.Val142Met
• NP_001364230.1:p.Val142Met
• NP_001364231.1:p.Val142Met
• NP_004541.1:p.Val142Met
• NC_000001.10:g.161179013G>A
• NR_165188.1:n.443G>A

This HGVS expression did not pass validation

Protein change:

V142M

Links:

dbSNP: rs886043292

NCBI 1000 Genomes Browser:

rs886043292

Molecular consequence:

• NM_001166159.2:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377298.1:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377299.1:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377300.1:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377301.1:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377302.1:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004550.5:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_165188.1:n.443G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1