ClinVar

NM_018668.5(VPS33B):c.1588G>C (p.Glu530Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90999969 (on Assembly GRCh38)
• Chr15: 91543199 (on Assembly GRCh37)

Preferred name:

NM_018668.5(VPS33B):c.1588G>C (p.Glu530Gln)

HGVS:

• NC_000015.10:g.90999969C>G
• NG_012162.1:g.27635G>C
• NM_001289148.1:c.1507G>C
• NM_001289149.1:c.1315G>C
• NM_018668.5:c.1588G>CMANE SELECT
• NP_001276077.1:p.Glu503Gln
• NP_001276078.1:p.Glu439Gln
• NP_061138.3:p.Glu530Gln
• LRG_884:g.27635G>C
• NC_000015.9:g.91543199C>G

This HGVS expression did not pass validation

Protein change:

E439Q

Links:

dbSNP: rs376948701

NCBI 1000 Genomes Browser:

rs376948701

Molecular consequence:

• NM_001289148.1:c.1507G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289149.1:c.1315G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_018668.5:c.1588G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1