ClinVar

NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter)

Gene:

IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.3

Genomic location:

• Chr11: 68906120 (on Assembly GRCh38)
• Chr11: 68673588 (on Assembly GRCh37)

Preferred name:

NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter)

Other names:

C46*

HGVS:

• NC_000011.10:g.68906120T>A
• NG_007976.1:g.7270T>A
• NM_002180.2:c.138T>A
• NP_002171.2:p.Cys46Ter
• NP_002171.2:p.Cys46Ter
• LRG_250t1:c.138T>A
• LRG_250:g.7270T>A
• LRG_250p1:p.Cys46Ter
• NC_000011.9:g.68673588T>A

This HGVS expression did not pass validation

Protein change:

CYS46TER

Links:

OMIM: 600502.0010; dbSNP: rs372000714

NCBI 1000 Genomes Browser:

rs372000714

Molecular consequence:

• NM_002180.2:c.138T>A - nonsense - [Sequence Ontology: SO:0001587]