ClinVar

NM_018668.5(VPS33B):c.1775-232T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90999286 (on Assembly GRCh38)
• Chr15: 91542516 (on Assembly GRCh37)

Preferred name:

NM_018668.5(VPS33B):c.1775-232T>C

HGVS:

• NC_000015.10:g.90999286A>G
• NG_012162.1:g.28318T>C
• NG_050647.1:g.366T>C
• NM_001289148.1:c.1694-232T>C
• NM_001289149.1:c.1502-232T>C
• NM_018668.5:c.1775-232T>CMANE SELECT
• LRG_884:g.28318T>C
• NC_000015.9:g.91542516A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs112565972

NCBI 1000 Genomes Browser:

rs112565972

Molecular consequence:

• NM_001289148.1:c.1694-232T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001289149.1:c.1502-232T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_018668.5:c.1775-232T>C - intron variant - [Sequence Ontology: SO:0001627]