ClinVar

NM_001079539.2(XBP1):c.549C>T (p.Gly183=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28796071 (on Assembly GRCh38)
• Chr22: 29192059 (on Assembly GRCh37)

Preferred name:

NM_001079539.2(XBP1):c.549C>T (p.Gly183=)

HGVS:

• NC_000022.11:g.28796071G>A
• NG_012266.1:g.9502C>T
• NM_001079539.2:c.549C>TMANE SELECT
• NM_001393999.1:c.399C>T
• NM_001394000.1:c.425C>T
• NM_005080.4:c.575C>T
• NP_001073007.1:p.Gly183=
• NP_001380928.1:p.Gly133=
• NP_001380929.1:p.Ala142Val
• NP_005071.2:p.Ala192Val
• NP_005071.2:p.Ala192Val
• NC_000022.10:g.29192059G>A
• NM_005080.3:c.575C>T

This HGVS expression did not pass validation

Protein change:

A142V

Molecular consequence:

• NM_001394000.1:c.425C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005080.4:c.575C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079539.2:c.549C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001393999.1:c.399C>T - synonymous variant - [Sequence Ontology: SO:0001819]