ClinVar

NM_001377299.1(NDUFS2):c.517C>T (p.Leu173=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161209485 (on Assembly GRCh38)
• Chr1: 161179275 (on Assembly GRCh37)

Preferred name:

NM_001377299.1(NDUFS2):c.517C>T (p.Leu173=)

HGVS:

• NC_000001.11:g.161209485C>T
• NG_013352.1:g.15171C>T
• NM_001166159.2:c.517C>T
• NM_001377298.1:c.517C>T
• NM_001377299.1:c.517C>TMANE SELECT
• NM_001377300.1:c.517C>T
• NM_001377301.1:c.517C>T
• NM_001377302.1:c.517C>T
• NM_004550.5:c.517C>T
• NP_001159631.1:p.Leu173=
• NP_001364227.1:p.Leu173=
• NP_001364228.1:p.Leu173=
• NP_001364229.1:p.Leu173=
• NP_001364230.1:p.Leu173=
• NP_001364231.1:p.Leu173=
• NP_004541.1:p.Leu173=
• NP_004541.1:p.Leu173=
• NC_000001.10:g.161179275C>T
• NM_004550.4:c.517C>T
• NR_165188.1:n.536C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1571614920

NCBI 1000 Genomes Browser:

rs1571614920

Molecular consequence:

• NR_165188.1:n.536C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001166159.2:c.517C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377298.1:c.517C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377299.1:c.517C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377300.1:c.517C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377301.1:c.517C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377302.1:c.517C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004550.5:c.517C>T - synonymous variant - [Sequence Ontology: SO:0001819]