ClinVar

NM_002495.4(NDUFS4):c.47G>T (p.Arg16Leu)

Genes:

LOC129993885:ATAC-STARR-seq lymphoblastoid active region 22547 [Gene]
NDUFS4:NADH:ubiquinone oxidoreductase subunit S4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q11.2

Genomic location:

• Chr5: 53560709 (on Assembly GRCh38)
• Chr5: 52856539 (on Assembly GRCh37)

Preferred name:

NM_002495.4(NDUFS4):c.47G>T (p.Arg16Leu)

HGVS:

• NC_000005.10:g.53560709G>T
• NG_008200.1:g.5075G>T
• NG_173331.1:g.269G>T
• NM_001318051.2:c.47G>T
• NM_002495.4:c.47G>TMANE SELECT
• NP_001304980.1:p.Arg16Leu
• NP_002486.1:p.Arg16Leu
• NC_000005.9:g.52856539G>T
• NM_002495.2:c.47G>T
• NR_134473.2:n.71G>T
• NR_134474.2:n.71G>T
• NR_134475.2:n.71G>T

This HGVS expression did not pass validation

Protein change:

R16L

Molecular consequence:

• NM_001318051.2:c.47G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002495.4:c.47G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_134473.2:n.71G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134474.2:n.71G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134475.2:n.71G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]