ClinVar

NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.2

Genomic location:

• Chr8: 99481683 (on Assembly GRCh38)
• Chr8: 100493911 (on Assembly GRCh37)

Preferred name:

NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser)

HGVS:

• NC_000008.11:g.99481683A>T
• NG_007098.2:g.473418A>T
• NM_017890.5:c.3751A>T
• NM_152564.5:c.3751A>TMANE SELECT
• NP_060360.3:p.Thr1251Ser
• NP_689777.3:p.Thr1251Ser
• LRG_351t1:c.3751A>T
• LRG_351:g.473418A>T
• LRG_351p1:p.Thr1251Ser
• NC_000008.10:g.100493911A>T
• NM_017890.4:c.3751A>T

This HGVS expression did not pass validation

Protein change:

T1251S

Links:

dbSNP: rs184693266

NCBI 1000 Genomes Browser:

rs184693266

Molecular consequence:

• NM_017890.5:c.3751A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_152564.5:c.3751A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1