ClinVar

NM_152564.5(VPS13B):c.8727C>T (p.Asp2909=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.2

Genomic location:

• Chr8: 99819517 (on Assembly GRCh38)
• Chr8: 100831745 (on Assembly GRCh37)

Preferred name:

NM_152564.5(VPS13B):c.8727C>T (p.Asp2909=)

HGVS:

• NC_000008.11:g.99819517C>T
• NG_007098.2:g.811252C>T
• NM_017890.5:c.8802C>T
• NM_152564.4:c.8727C>T
• NM_152564.5:c.8727C>TMANE SELECT
• NP_060360.3:p.Asp2934=
• NP_060360.3:p.Asp2934=
• NP_689777.3:p.Asp2909=
• LRG_351t1:c.8802C>T
• LRG_351t2:c.8727C>T
• LRG_351:g.811252C>T
• LRG_351p1:p.Asp2934=
• NC_000008.10:g.100831745C>T
• NM_017890.4:c.8802C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs201517365

NCBI 1000 Genomes Browser:

rs201517365

Molecular consequence:

• NM_017890.5:c.8802C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152564.5:c.8727C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2