ClinVar

NM_002078.5(GOLGA4):c.2386G>A (p.Ala796Thr)

Gene:

GOLGA4:golgin A4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 37324272 (on Assembly GRCh38)
• Chr3: 37365763 (on Assembly GRCh37)

Preferred name:

NM_002078.5(GOLGA4):c.2386G>A (p.Ala796Thr)

HGVS:

• NC_000003.12:g.37324272G>A
• NG_047053.1:g.86082G>A
• NM_001172713.3:c.2452G>A
• NM_001410721.2:c.2452G>A
• NM_001429190.1:c.2503G>A
• NM_001429191.1:c.2452G>A
• NM_001429193.1:c.2338G>A
• NM_001429196.1:c.2404G>A
• NM_001429198.1:c.2404G>A
• NM_001429201.1:c.2386G>A
• NM_001429202.1:c.2347G>A
• NM_002078.5:c.2386G>AMANE SELECT
• NP_001166184.1:p.Ala818Thr
• NP_001166184.1:p.Ala818Thr
• NP_001397650.1:p.Ala818Thr
• NP_001397650.1:p.Ala818Thr
• NP_001416119.1:p.Ala835Thr
• NP_001416120.1:p.Ala818Thr
• NP_001416122.1:p.Ala780Thr
• NP_001416125.1:p.Ala802Thr
• NP_001416127.1:p.Ala802Thr
• NP_001416130.1:p.Ala796Thr
• NP_001416131.1:p.Ala783Thr
• NP_002069.2:p.Ala796Thr
• NC_000003.11:g.37365763G>A
• NM_001172713.1:c.2452G>A
• NM_001172713.2:c.2452G>A
• NM_001410721.1:c.2452G>A

This HGVS expression did not pass validation

Protein change:

A780T

Molecular consequence:

• NM_001172713.3:c.2452G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410721.2:c.2452G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429190.1:c.2503G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429191.1:c.2452G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429193.1:c.2338G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429196.1:c.2404G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429198.1:c.2404G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429201.1:c.2386G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429202.1:c.2347G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002078.5:c.2386G>A - missense variant - [Sequence Ontology: SO:0001583]