ClinVar

NM_178009.5(DGKH):c.3428C>T (p.Thr1143Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.11

Genomic location:

• Chr13: 42219780 (on Assembly GRCh38)
• Chr13: 42793916 (on Assembly GRCh37)

Preferred name:

NM_178009.5(DGKH):c.3428C>T (p.Thr1143Ile)

HGVS:

• NC_000013.11:g.42219780C>T
• NG_029191.3:g.184745C>T
• NM_001204504.3:c.3428C>T
• NM_001204505.3:c.3020C>T
• NM_001204506.3:c.3020C>T
• NM_001297429.2:c.2693C>T
• NM_152910.6:c.3428C>T
• NM_178009.5:c.3428C>TMANE SELECT
• NP_001191433.1:p.Thr1143Ile
• NP_001191434.1:p.Thr1007Ile
• NP_001191435.1:p.Thr1007Ile
• NP_001284358.1:p.Thr898Ile
• NP_690874.2:p.Thr1143Ile
• NP_821077.1:p.Thr1143Ile
• NC_000013.10:g.42793916C>T
• NM_178009.3:c.3428C>T
• NR_123714.2:n.3136C>T
• NR_123715.2:n.3944C>T

This HGVS expression did not pass validation

Protein change:

T1007I

Molecular consequence:

• NM_001204504.3:c.3428C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204505.3:c.3020C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204506.3:c.3020C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297429.2:c.2693C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_152910.6:c.3428C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_178009.5:c.3428C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_123714.2:n.3136C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_123715.2:n.3944C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]