ClinVar

NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.2

Genomic location:

• Chr8: 99832370 (on Assembly GRCh38)
• Chr8: 100844598 (on Assembly GRCh37)

Preferred name:

NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe)

HGVS:

• NC_000008.11:g.99832370A>T
• NG_007098.2:g.824105A>T
• NM_017890.5:c.9407A>T
• NM_152564.5:c.9332A>TMANE SELECT
• NP_060360.3:p.Tyr3136Phe
• NP_689777.3:p.Tyr3111Phe
• LRG_351:g.824105A>T
• NC_000008.10:g.100844598A>T
• NM_017890.3:c.9407A>T

This HGVS expression did not pass validation

Protein change:

Y3111F

Links:

dbSNP: rs199704158

NCBI 1000 Genomes Browser:

rs199704158

Molecular consequence:

• NM_017890.5:c.9407A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_152564.5:c.9332A>T - missense variant - [Sequence Ontology: SO:0001583]