ClinVar

NM_178009.5(DGKH):c.2009A>T (p.Asp670Val)

Gene:

DGKH:diacylglycerol kinase eta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.11

Genomic location:

• Chr13: 42190499 (on Assembly GRCh38)
• Chr13: 42764635 (on Assembly GRCh37)

Preferred name:

NM_178009.5(DGKH):c.2009A>T (p.Asp670Val)

HGVS:

• NC_000013.11:g.42190499A>T
• NG_029191.3:g.155464A>T
• NM_001204504.3:c.2009A>T
• NM_001204505.3:c.1601A>T
• NM_001204506.3:c.1601A>T
• NM_001297429.2:c.1274A>T
• NM_152910.6:c.2009A>T
• NM_178009.5:c.2009A>TMANE SELECT
• NP_001191433.1:p.Asp670Val
• NP_001191434.1:p.Asp534Val
• NP_001191435.1:p.Asp534Val
• NP_001284358.1:p.Asp425Val
• NP_690874.2:p.Asp670Val
• NP_821077.1:p.Asp670Val
• NC_000013.10:g.42764635A>T
• NM_178009.3:c.2009A>T
• NR_123714.2:n.1717A>T
• NR_123715.2:n.2330A>T

This HGVS expression did not pass validation

Protein change:

D425V

Molecular consequence:

• NM_001204504.3:c.2009A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204505.3:c.1601A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204506.3:c.1601A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297429.2:c.1274A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_152910.6:c.2009A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_178009.5:c.2009A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_123714.2:n.1717A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_123715.2:n.2330A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]