ClinVar

NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter)

Gene:

VPS13B:vacuolar protein sorting 13 homolog B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.2

Genomic location:

• Chr8: 99121266 (on Assembly GRCh38)
• Chr8: 100133494 (on Assembly GRCh37)

Preferred name:

NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter)

HGVS:

• NC_000008.11:g.99121266C>T
• NG_007098.2:g.113001C>T
• NM_015243.3:c.1027C>T
• NM_017890.5:c.1027C>T
• NM_152564.5:c.1027C>TMANE SELECT
• NM_181661.3:c.1027C>T
• NP_056058.2:p.Gln343Ter
• NP_060360.3:p.Gln343Ter
• NP_060360.3:p.Gln343Ter
• NP_689777.3:p.Gln343Ter
• NP_858047.2:p.Gln343Ter
• LRG_351t1:c.1027C>T
• LRG_351:g.113001C>T
• LRG_351p1:p.Gln343Ter
• NC_000008.10:g.100133494C>T
• NM_017890.4:c.1027C>T
• NR_047582.2:n.1245C>T

This HGVS expression did not pass validation

Protein change:

Q343*

Links:

dbSNP: rs1554625632

NCBI 1000 Genomes Browser:

rs1554625632

Molecular consequence:

• NR_047582.2:n.1245C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_015243.3:c.1027C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_017890.5:c.1027C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_152564.5:c.1027C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_181661.3:c.1027C>T - nonsense - [Sequence Ontology: SO:0001587]