ClinVar

NM_002495.4(NDUFS4):c.78C>T (p.Ser26=)

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: 53560740 (on Assembly GRCh38)
• Chr5: 52856570 (on Assembly GRCh37)

Preferred name:

NM_002495.4(NDUFS4):c.78C>T (p.Ser26=)

HGVS:

• NC_000005.10:g.53560740C>T
• NG_008200.1:g.5106C>T
• NG_173331.1:g.300C>T
• NM_001318051.2:c.78C>T
• NM_002495.4:c.78C>TMANE SELECT
• NP_001304980.1:p.Ser26=
• NP_002486.1:p.Ser26=
• NC_000005.9:g.52856570C>T
• NR_134473.2:n.102C>T
• NR_134474.2:n.102C>T
• NR_134475.2:n.102C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_134473.2:n.102C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134474.2:n.102C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134475.2:n.102C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001318051.2:c.78C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002495.4:c.78C>T - synonymous variant - [Sequence Ontology: SO:0001819]