ClinVar

NM_016146.6(TRAPPC4):c.505C>T (p.Leu169Phe)

Gene:

TRAPPC4:trafficking protein particle complex subunit 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119021810 (on Assembly GRCh38)
• Chr11: 118892520 (on Assembly GRCh37)

Preferred name:

NM_016146.6(TRAPPC4):c.505C>T (p.Leu169Phe)

HGVS:

• NC_000011.10:g.119021810C>T
• NM_001318486.2:c.187C>T
• NM_001318488.2:c.455-64C>T
• NM_001318489.2:c.343C>T
• NM_001318490.2:c.376C>T
• NM_001318492.2:c.190C>T
• NM_001318494.2:c.226C>T
• NM_016146.6:c.505C>TMANE SELECT
• NP_001305415.1:p.Leu63Phe
• NP_001305418.1:p.Leu115Phe
• NP_001305419.1:p.Leu126Phe
• NP_001305421.1:p.Leu64Phe
• NP_001305423.1:p.Leu76Phe
• NP_057230.1:p.Leu169Phe
• NC_000011.9:g.118892520C>T
• NM_016146.4:c.505C>T

This HGVS expression did not pass validation

Protein change:

L115F

Molecular consequence:

• NM_001318488.2:c.455-64C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318486.2:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318489.2:c.343C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318490.2:c.376C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318492.2:c.190C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318494.2:c.226C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016146.6:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]