ClinVar

NM_001211.6(BUB1B):c.2791C>T (p.Arg931Trp)

Genes:

BUB1B:BUB1 mitotic checkpoint serine/threonine kinase B [Gene - OMIM - HGNC]
BUB1B-PAK6:BUB1B-PAK6 readthrough [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 40217608 (on Assembly GRCh38)
• Chr15: 40509809 (on Assembly GRCh37)

Preferred name:

NM_001211.6(BUB1B):c.2791C>T (p.Arg931Trp)

HGVS:

• NC_000015.10:g.40217608C>T
• NG_016338.1:g.61600C>T
• NG_033169.1:g.5181C>T
• NM_001128628.3:c.-260C>T
• NM_001128629.3:c.-177C>T
• NM_001211.6:c.2791C>TMANE SELECT
• NP_001202.4:p.Arg931Trp
• NP_001202.5:p.Arg931Trp
• LRG_489t1:c.2791C>T
• LRG_489:g.61600C>T
• LRG_489p1:p.Arg931Trp
• NC_000015.9:g.40509809C>T
• NM_001211.5:c.2791C>T

This HGVS expression did not pass validation

Protein change:

R931W

Links:

dbSNP: rs766052877

NCBI 1000 Genomes Browser:

rs766052877

Molecular consequence:

• NM_001128628.3:c.-260C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001128629.3:c.-177C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001211.6:c.2791C>T - missense variant - [Sequence Ontology: SO:0001583]