ClinVar

NM_002541.4(OGDH):c.619A>T (p.Ile207Phe)

Gene:

OGDH:oxoglutarate dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44666837 (on Assembly GRCh38)
• Chr7: 44706436 (on Assembly GRCh37)

Preferred name:

NM_002541.4(OGDH):c.619A>T (p.Ile207Phe)

HGVS:

• NC_000007.14:g.44666837A>T
• NG_023260.1:g.65316A>T
• NM_001003941.3:c.619A>T
• NM_001165036.2:c.607A>T
• NM_001363523.2:c.652A>T
• NM_002541.4:c.619A>TMANE SELECT
• NP_001003941.1:p.Ile207Phe
• NP_001158508.1:p.Ile203Phe
• NP_001350452.1:p.Ile218Phe
• NP_002532.2:p.Ile207Phe
• NC_000007.13:g.44706436A>T
• NM_002541.3:c.619A>T

This HGVS expression did not pass validation

Protein change:

I203F

Molecular consequence:

• NM_001003941.3:c.619A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001165036.2:c.607A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363523.2:c.652A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002541.4:c.619A>T - missense variant - [Sequence Ontology: SO:0001583]