ClinVar

NM_002078.5(GOLGA4):c.1596A>C (p.Gln532His)

Gene:

GOLGA4:golgin A4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 37321781 (on Assembly GRCh38)
• Chr3: 37363272 (on Assembly GRCh37)

Preferred name:

NM_002078.5(GOLGA4):c.1596A>C (p.Gln532His)

HGVS:

• NC_000003.12:g.37321781A>C
• NG_047053.1:g.83591A>C
• NM_001172713.3:c.1662A>C
• NM_001410721.2:c.1662A>C
• NM_001429190.1:c.1713A>C
• NM_001429191.1:c.1662A>C
• NM_001429193.1:c.1548A>C
• NM_001429196.1:c.1614A>C
• NM_001429198.1:c.1614A>C
• NM_001429201.1:c.1596A>C
• NM_001429202.1:c.1557A>C
• NM_002078.5:c.1596A>CMANE SELECT
• NP_001166184.1:p.Gln554His
• NP_001166184.1:p.Gln554His
• NP_001397650.1:p.Gln554His
• NP_001397650.1:p.Gln554His
• NP_001416119.1:p.Gln571His
• NP_001416120.1:p.Gln554His
• NP_001416122.1:p.Gln516His
• NP_001416125.1:p.Gln538His
• NP_001416127.1:p.Gln538His
• NP_001416130.1:p.Gln532His
• NP_001416131.1:p.Gln519His
• NP_002069.2:p.Gln532His
• NC_000003.11:g.37363272A>C
• NM_001172713.1:c.1662A>C
• NM_001172713.2:c.1662A>C
• NM_001410721.1:c.1662A>C

This HGVS expression did not pass validation

Protein change:

Q516H

Molecular consequence:

• NM_001172713.3:c.1662A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410721.2:c.1662A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429190.1:c.1713A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429191.1:c.1662A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429193.1:c.1548A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429196.1:c.1614A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429198.1:c.1614A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429201.1:c.1596A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429202.1:c.1557A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002078.5:c.1596A>C - missense variant - [Sequence Ontology: SO:0001583]