ClinVar

NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.2

Genomic location:

• Chr8: 99875524 (on Assembly GRCh38)
• Chr8: 100887752 (on Assembly GRCh37)

Preferred name:

NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr)

HGVS:

• NC_000008.11:g.99875524T>C
• NG_007098.2:g.867259T>C
• NM_017890.5:c.11927T>C
• NM_152564.4:c.11852T>C
• NM_152564.5:c.11852T>CMANE SELECT
• NP_060360.3:p.Ile3976Thr
• NP_689777.3:p.Ile3951Thr
• LRG_351t1:c.11927T>C
• LRG_351t2:c.11852T>C
• LRG_351:g.867259T>C
• LRG_351p1:p.Ile3976Thr
• NC_000008.10:g.100887752T>C
• NM_017890.3:c.11927T>C
• NM_017890.4:c.11927T>C

This HGVS expression did not pass validation

Protein change:

I3951T

Links:

dbSNP: rs73273219

NCBI 1000 Genomes Browser:

rs73273219

Molecular consequence:

• NM_017890.5:c.11927T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_152564.5:c.11852T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1