ClinVar

NM_018668.5(VPS33B):c.1701C>T (p.Leu567=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90999750 (on Assembly GRCh38)
• Chr15: 91542980 (on Assembly GRCh37)

Preferred name:

NM_018668.5(VPS33B):c.1701C>T (p.Leu567=)

HGVS:

• NC_000015.10:g.90999750G>A
• NG_012162.1:g.27854C>T
• NM_001289148.1:c.1620C>T
• NM_001289149.1:c.1428C>T
• NM_018668.5:c.1701C>TMANE SELECT
• NP_001276077.1:p.Leu540=
• NP_001276078.1:p.Leu476=
• NP_061138.3:p.Leu567=
• NP_061138.3:p.Leu567=
• LRG_884t1:c.1701C>T
• LRG_884:g.27854C>T
• LRG_884p1:p.Leu567=
• NC_000015.9:g.91542980G>A
• NM_018668.3:c.1701C>T
• NM_018668.4:c.1701C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs146999653

NCBI 1000 Genomes Browser:

rs146999653

Molecular consequence:

• NM_001289148.1:c.1620C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289149.1:c.1428C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018668.5:c.1701C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1