ClinVar

NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.2

Genomic location:

• Chr8: 99861926 (on Assembly GRCh38)
• Chr8: 100874154 (on Assembly GRCh37)

Preferred name:

NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)

HGVS:

• NC_000008.11:g.99861926G>A
• NG_007098.2:g.853661G>A
• NM_017890.5:c.11270G>A
• NM_152564.5:c.11195G>AMANE SELECT
• NP_060360.3:p.Arg3757Gln
• NP_060360.3:p.Arg3757Gln
• NP_689777.3:p.Arg3732Gln
• LRG_351t1:c.11270G>A
• LRG_351t2:c.11195G>A
• LRG_351:g.853661G>A
• LRG_351p1:p.Arg3757Gln
• NC_000008.10:g.100874154G>A
• NM_017890.3:c.11270G>A
• NM_017890.4:c.11270G>A
• NM_152564.4:c.11195G>A

This HGVS expression did not pass validation

Protein change:

R3732Q

Links:

dbSNP: rs149318176

NCBI 1000 Genomes Browser:

rs149318176

Molecular consequence:

• NM_017890.5:c.11270G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152564.5:c.11195G>A - missense variant - [Sequence Ontology: SO:0001583]