ClinVar

NM_002078.5(GOLGA4):c.163-8403C>T

Gene:

GOLGA4:golgin A4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 37273555 (on Assembly GRCh38)
• Chr3: 37315046 (on Assembly GRCh37)

Preferred name:

NM_002078.5(GOLGA4):c.163-8403C>T

HGVS:

• NC_000003.12:g.37273555C>T
• NG_047053.1:g.35365C>T
• NM_001172713.3:c.182C>T
• NM_001410721.2:c.182C>T
• NM_001429190.1:c.281C>T
• NM_001429191.1:c.182C>T
• NM_001429196.1:c.182C>T
• NM_001429198.1:c.182C>T
• NM_001429202.1:c.182C>T
• NM_002078.5:c.163-8403C>TMANE SELECT
• NP_001166184.1:p.Ser61Leu
• NP_001166184.1:p.Ser61Leu
• NP_001397650.1:p.Ser61Leu
• NP_001397650.1:p.Ser61Leu
• NP_001416119.1:p.Ser94Leu
• NP_001416120.1:p.Ser61Leu
• NP_001416125.1:p.Ser61Leu
• NP_001416127.1:p.Ser61Leu
• NP_001416131.1:p.Ser61Leu
• NC_000003.11:g.37315046C>T
• NM_001172713.1:c.182C>T
• NM_001172713.2:c.182C>T
• NM_001410721.1:c.182C>T

This HGVS expression did not pass validation

Protein change:

S61L

Molecular consequence:

• NM_002078.5:c.163-8403C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001172713.3:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410721.2:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429190.1:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429191.1:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429196.1:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429198.1:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429202.1:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]