ClinVar

NM_152564.5(VPS13B):c.8728G>A (p.Glu2910Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.2

Genomic location:

• Chr8: 99819518 (on Assembly GRCh38)
• Chr8: 100831746 (on Assembly GRCh37)

Preferred name:

NM_152564.5(VPS13B):c.8728G>A (p.Glu2910Lys)

HGVS:

• NC_000008.11:g.99819518G>A
• NG_007098.2:g.811253G>A
• NM_017890.5:c.8803G>A
• NM_152564.4:c.8728G>A
• NM_152564.5:c.8728G>AMANE SELECT
• NP_060360.3:p.Glu2935Lys
• NP_689777.3:p.Glu2910Lys
• LRG_351t1:c.8803G>A
• LRG_351t2:c.8728G>A
• LRG_351:g.811253G>A
• NC_000008.10:g.100831746G>A
• NM_017890.4:c.8803G>A

This HGVS expression did not pass validation

Protein change:

E2910K

Links:

dbSNP: rs143787982

NCBI 1000 Genomes Browser:

rs143787982

Molecular consequence:

• NM_017890.5:c.8803G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152564.5:c.8728G>A - missense variant - [Sequence Ontology: SO:0001583]