ClinVar

NM_199069.2(NDUFAF3):c.334A>T (p.Ile112Leu)

Gene:

NDUFAF3:NADH:ubiquinone oxidoreductase complex assembly factor 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 49022765 (on Assembly GRCh38)
• Chr3: 49060198 (on Assembly GRCh37)

Preferred name:

NM_199069.2(NDUFAF3):c.334A>T (p.Ile112Leu)

HGVS:

• NC_000003.12:g.49022765A>T
• NG_012091.1:g.11678T>A
• NG_016282.1:g.7291A>T
• NG_033126.1:g.3307T>A
• NM_199069.2:c.334A>TMANE SELECT
• NM_199070.2:c.163A>T
• NM_199073.2:c.163A>T
• NM_199074.2:c.163A>T
• NP_951032.1:p.Ile112Leu
• NP_951033.1:p.Ile55Leu
• NP_951047.1:p.Ile55Leu
• NP_951056.1:p.Ile55Leu
• NP_951056.1:p.Ile55Leu
• NC_000003.11:g.49060198A>T
• NM_199069.1:c.334A>T
• NM_199074.1:c.163A>T

This HGVS expression did not pass validation

Protein change:

I112L

Molecular consequence:

• NM_199069.2:c.334A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199070.2:c.163A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199073.2:c.163A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199074.2:c.163A>T - missense variant - [Sequence Ontology: SO:0001583]