ClinVar

NM_018668.5(VPS33B):c.*125C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90998850 (on Assembly GRCh38)
• Chr15: 91542080 (on Assembly GRCh37)

Preferred name:

NM_018668.5(VPS33B):c.*125C>T

HGVS:

• NC_000015.10:g.90998850G>A
• NG_012162.1:g.28754C>T
• NG_050647.1:g.802C>T
• NM_001289148.1:c.*125C>T
• NM_001289149.1:c.*125C>T
• NM_018668.5:c.*125C>TMANE SELECT
• LRG_884:g.28754C>T
• NC_000015.9:g.91542080G>A
• NM_018668.3:c.*125C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs76401688

NCBI 1000 Genomes Browser:

rs76401688

Molecular consequence:

• NM_001289148.1:c.*125C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001289149.1:c.*125C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_018668.5:c.*125C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]