ClinVar

NM_021942.6(TRAPPC11):c.2186T>C (p.Leu729Pro)

Gene:

TRAPPC11:trafficking protein particle complex subunit 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q35.1

Genomic location:

• Chr4: 183693096 (on Assembly GRCh38)
• Chr4: 184614249 (on Assembly GRCh37)

Preferred name:

NM_021942.6(TRAPPC11):c.2186T>C (p.Leu729Pro)

HGVS:

• NC_000004.12:g.183693096T>C
• NG_033102.1:g.38830T>C
• NM_021942.6:c.2186T>CMANE SELECT
• NM_199053.3:c.2186T>C
• NP_068761.4:p.Leu729Pro
• NP_951008.1:p.Leu729Pro
• NC_000004.11:g.184614249T>C

This HGVS expression did not pass validation

Protein change:

L729P

Links:

dbSNP: rs1736339881

NCBI 1000 Genomes Browser:

rs1736339881

Molecular consequence:

• NM_021942.6:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_199053.3:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]