ClinVar

NM_002078.5(GOLGA4):c.2432A>G (p.His811Arg)

Gene:

GOLGA4:golgin A4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 37324318 (on Assembly GRCh38)
• Chr3: 37365809 (on Assembly GRCh37)

Preferred name:

NM_002078.5(GOLGA4):c.2432A>G (p.His811Arg)

HGVS:

• NC_000003.12:g.37324318A>G
• NG_047053.1:g.86128A>G
• NM_001172713.3:c.2498A>G
• NM_001410721.2:c.2498A>G
• NM_001429190.1:c.2549A>G
• NM_001429191.1:c.2498A>G
• NM_001429193.1:c.2384A>G
• NM_001429196.1:c.2450A>G
• NM_001429198.1:c.2450A>G
• NM_001429201.1:c.2432A>G
• NM_001429202.1:c.2393A>G
• NM_002078.5:c.2432A>GMANE SELECT
• NP_001166184.1:p.His833Arg
• NP_001166184.1:p.His833Arg
• NP_001397650.1:p.His833Arg
• NP_001397650.1:p.His833Arg
• NP_001416119.1:p.His850Arg
• NP_001416120.1:p.His833Arg
• NP_001416122.1:p.His795Arg
• NP_001416125.1:p.His817Arg
• NP_001416127.1:p.His817Arg
• NP_001416130.1:p.His811Arg
• NP_001416131.1:p.His798Arg
• NP_002069.2:p.His811Arg
• NC_000003.11:g.37365809A>G
• NM_001172713.1:c.2498A>G
• NM_001172713.2:c.2498A>G
• NM_001410721.1:c.2498A>G

This HGVS expression did not pass validation

Protein change:

H795R

Molecular consequence:

• NM_001172713.3:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410721.2:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429190.1:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429191.1:c.2498A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429193.1:c.2384A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429196.1:c.2450A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429198.1:c.2450A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429201.1:c.2432A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429202.1:c.2393A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_002078.5:c.2432A>G - missense variant - [Sequence Ontology: SO:0001583]