ClinVar

NM_152564.5(VPS13B):c.7308G>T (p.Leu2436=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.2

Genomic location:

• Chr8: 99776835 (on Assembly GRCh38)
• Chr8: 100789063 (on Assembly GRCh37)

Preferred name:

NM_152564.5(VPS13B):c.7308G>T (p.Leu2436=)

HGVS:

• NC_000008.11:g.99776835G>T
• NG_007098.2:g.768570G>T
• NM_017890.5:c.7383G>T
• NM_152564.5:c.7308G>TMANE SELECT
• NP_060360.3:p.Leu2461=
• NP_060360.3:p.Leu2461=
• NP_689777.3:p.Leu2436=
• NP_689777.3:p.Leu2436=
• LRG_351t1:c.7383G>T
• LRG_351t2:c.7308G>T
• LRG_351:g.768570G>T
• LRG_351p1:p.Leu2461=
• LRG_351p2:p.Leu2436=
• NC_000008.10:g.100789063G>T
• NM_017890.4:c.7383G>T
• NM_152564.4:c.7308G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_017890.5:c.7383G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152564.5:c.7308G>T - synonymous variant - [Sequence Ontology: SO:0001819]