ClinVar

NM_004336.5(BUB1):c.3203C>T (p.Ala1068Val)

Gene:

BUB1:BUB1 mitotic checkpoint serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q13

Genomic location:

• Chr2: 110638019 (on Assembly GRCh38)
• Chr2: 111395596 (on Assembly GRCh37)

Preferred name:

NM_004336.5(BUB1):c.3203C>T (p.Ala1068Val)

HGVS:

• NC_000002.12:g.110638019G>A
• NG_012048.2:g.45044C>T
• NM_001278616.2:c.3143C>T
• NM_001278617.2:c.3032C>T
• NM_004336.5:c.3203C>TMANE SELECT
• NP_001265545.1:p.Ala1048Val
• NP_001265546.1:p.Ala1011Val
• NP_004327.1:p.Ala1068Val
• NC_000002.11:g.111395596G>A
• NG_012048.1:g.45088C>T
• NM_004336.3:c.3203C>T

This HGVS expression did not pass validation

Protein change:

A1011V

Molecular consequence:

• NM_001278616.2:c.3143C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278617.2:c.3032C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004336.5:c.3203C>T - missense variant - [Sequence Ontology: SO:0001583]