ClinVar

NM_001079539.2(XBP1):c.725C>T (p.Thr242Met)

Gene:

XBP1:X-box binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28795581 (on Assembly GRCh38)
• Chr22: 29191569 (on Assembly GRCh37)

Preferred name:

NM_001079539.2(XBP1):c.725C>T (p.Thr242Met)

HGVS:

• NC_000022.11:g.28795581G>A
• NG_012266.1:g.9992C>T
• NM_001079539.2:c.725C>TMANE SELECT
• NM_001393999.1:c.575C>T
• NM_001394000.1:c.601C>T
• NM_005080.4:c.751C>T
• NP_001073007.1:p.Thr242Met
• NP_001380928.1:p.Thr192Met
• NP_001380929.1:p.Arg201Cys
• NP_005071.2:p.Arg251Cys
• NP_005071.2:p.Arg251Cys
• NC_000022.10:g.29191569G>A
• NM_005080.3:c.751C>T

This HGVS expression did not pass validation

Protein change:

R201C

Molecular consequence:

• NM_001079539.2:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393999.1:c.575C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394000.1:c.601C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005080.4:c.751C>T - missense variant - [Sequence Ontology: SO:0001583]