ClinVar

NM_018668.5(VPS33B):c.1246C>T (p.Arg416Ter)

Gene:

VPS33B:VPS33B late endosome and lysosome associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 91003111 (on Assembly GRCh38)
• Chr15: 91546341 (on Assembly GRCh37)

Preferred name:

NM_018668.5(VPS33B):c.1246C>T (p.Arg416Ter)

HGVS:

• NC_000015.10:g.91003111G>A
• NG_012162.1:g.24493C>T
• NM_001289148.1:c.1165C>T
• NM_001289149.1:c.973C>T
• NM_018668.5:c.1246C>TMANE SELECT
• NP_001276077.1:p.Arg389Ter
• NP_001276078.1:p.Arg325Ter
• NP_061138.3:p.Arg416Ter
• LRG_884:g.24493C>T
• NC_000015.9:g.91546341G>A

This HGVS expression did not pass validation

Protein change:

R325*

Links:

dbSNP: rs780626848

NCBI 1000 Genomes Browser:

rs780626848

Molecular consequence:

• NM_001289148.1:c.1165C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001289149.1:c.973C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_018668.5:c.1246C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

2