ClinVar

NM_002078.5(GOLGA4):c.742C>T (p.Leu248Phe)

Gene:

GOLGA4:golgin A4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 37296147 (on Assembly GRCh38)
• Chr3: 37337638 (on Assembly GRCh37)

Preferred name:

NM_002078.5(GOLGA4):c.742C>T (p.Leu248Phe)

HGVS:

• NC_000003.12:g.37296147C>T
• NG_047053.1:g.57957C>T
• NM_001172713.3:c.808C>T
• NM_001410721.2:c.808C>T
• NM_001429190.1:c.859C>T
• NM_001429191.1:c.808C>T
• NM_001429193.1:c.694C>T
• NM_001429196.1:c.760C>T
• NM_001429198.1:c.760C>T
• NM_001429201.1:c.742C>T
• NM_001429202.1:c.703C>T
• NM_002078.5:c.742C>TMANE SELECT
• NP_001166184.1:p.Leu270Phe
• NP_001166184.1:p.Leu270Phe
• NP_001397650.1:p.Leu270Phe
• NP_001397650.1:p.Leu270Phe
• NP_001416119.1:p.Leu287Phe
• NP_001416120.1:p.Leu270Phe
• NP_001416122.1:p.Leu232Phe
• NP_001416125.1:p.Leu254Phe
• NP_001416127.1:p.Leu254Phe
• NP_001416130.1:p.Leu248Phe
• NP_001416131.1:p.Leu235Phe
• NP_002069.2:p.Leu248Phe
• NC_000003.11:g.37337638C>T
• NM_001172713.1:c.808C>T
• NM_001172713.2:c.808C>T
• NM_001410721.1:c.808C>T

This HGVS expression did not pass validation

Protein change:

L232F

Molecular consequence:

• NM_001172713.3:c.808C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410721.2:c.808C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429190.1:c.859C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429191.1:c.808C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429193.1:c.694C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429196.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429198.1:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429201.1:c.742C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429202.1:c.703C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002078.5:c.742C>T - missense variant - [Sequence Ontology: SO:0001583]