ClinVar

NM_024941.4(TRAPPC13):c.1225G>C (p.Val409Leu)

Gene:

TRAPPC13:trafficking protein particle complex subunit 13 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q12.3

Genomic location:

• Chr5: 65664582 (on Assembly GRCh38)
• Chr5: 64960409 (on Assembly GRCh37)

Preferred name:

NM_024941.4(TRAPPC13):c.1225G>C (p.Val409Leu)

HGVS:

• NC_000005.10:g.65664582G>C
• NM_001093755.2:c.1228G>C
• NM_001093756.2:c.1207G>C
• NM_001243737.2:c.1210G>C
• NM_001365342.1:c.739G>C
• NM_001365343.1:c.736G>C
• NM_024941.4:c.1225G>CMANE SELECT
• NP_001087224.1:p.Val410Leu
• NP_001087225.1:p.Val403Leu
• NP_001230666.1:p.Val404Leu
• NP_001352271.1:p.Val247Leu
• NP_001352272.1:p.Val246Leu
• NP_079217.2:p.Val409Leu
• NC_000005.9:g.64960409G>C
• NM_001093755.1:c.1228G>C

This HGVS expression did not pass validation

Protein change:

V246L

Molecular consequence:

• NM_001093755.2:c.1228G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001093756.2:c.1207G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243737.2:c.1210G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365342.1:c.739G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365343.1:c.736G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_024941.4:c.1225G>C - missense variant - [Sequence Ontology: SO:0001583]