ClinVar

NM_018668.5(VPS33B):c.1749C>T (p.Ala583=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90999702 (on Assembly GRCh38)
• Chr15: 91542932 (on Assembly GRCh37)

Preferred name:

NM_018668.5(VPS33B):c.1749C>T (p.Ala583=)

HGVS:

• NC_000015.10:g.90999702G>A
• NG_012162.1:g.27902C>T
• NM_001289148.1:c.1668C>T
• NM_001289149.1:c.1476C>T
• NM_018668.5:c.1749C>TMANE SELECT
• NP_001276077.1:p.Ala556=
• NP_001276078.1:p.Ala492=
• NP_061138.3:p.Ala583=
• NP_061138.3:p.Ala583=
• LRG_884t1:c.1749C>T
• LRG_884:g.27902C>T
• LRG_884p1:p.Ala583=
• NC_000015.9:g.91542932G>A
• NM_018668.3:c.1749C>T
• NM_018668.4:c.1749C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs201436915

NCBI 1000 Genomes Browser:

rs201436915

Molecular consequence:

• NM_001289148.1:c.1668C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289149.1:c.1476C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018668.5:c.1749C>T - synonymous variant - [Sequence Ontology: SO:0001819]