ClinVar

NM_004336.5(BUB1):c.3244C>T (p.Arg1082Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q13

Genomic location:

• Chr2: 110637978 (on Assembly GRCh38)
• Chr2: 111395555 (on Assembly GRCh37)

Preferred name:

NM_004336.5(BUB1):c.3244C>T (p.Arg1082Cys)

HGVS:

• NC_000002.12:g.110637978G>A
• NG_012048.2:g.45085C>T
• NM_001278616.2:c.3184C>T
• NM_001278617.2:c.3073C>T
• NM_004336.5:c.3244C>TMANE SELECT
• NP_001265545.1:p.Arg1062Cys
• NP_001265546.1:p.Arg1025Cys
• NP_004327.1:p.Arg1082Cys
• NC_000002.11:g.111395555G>A
• NG_012048.1:g.45129C>T
• NM_004336.3:c.3244C>T

This HGVS expression did not pass validation

Protein change:

R1025C

Molecular consequence:

• NM_001278616.2:c.3184C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278617.2:c.3073C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004336.5:c.3244C>T - missense variant - [Sequence Ontology: SO:0001583]