ClinVar

NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.2

Genomic location:

• Chr8: 99875556 (on Assembly GRCh38)
• Chr8: 100887784 (on Assembly GRCh37)

Preferred name:

NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala)

HGVS:

• NC_000008.11:g.99875556C>G
• NG_007098.2:g.867291C>G
• NM_017890.5:c.11959C>G
• NM_152564.5:c.11884C>GMANE SELECT
• NP_060360.3:p.Pro3987Ala
• NP_060360.3:p.Pro3987Ala
• NP_689777.3:p.Pro3962Ala
• LRG_351t1:c.11959C>G
• LRG_351:g.867291C>G
• LRG_351p1:p.Pro3987Ala
• NC_000008.10:g.100887784C>G
• NM_017890.3:c.11959C>G
• NM_017890.4:c.11959C>G

This HGVS expression did not pass validation

Protein change:

P3962A

Links:

dbSNP: rs201483764

NCBI 1000 Genomes Browser:

rs201483764

Molecular consequence:

• NM_017890.5:c.11959C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_152564.5:c.11884C>G - missense variant - [Sequence Ontology: SO:0001583]