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LMNB1 lamin B1

Gene ID: 4001, updated on 7-Oct-2018
Also known as: LMN; ADLD; LMN2; LMNB

Summary

This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-07-06)

ClinGen Genome Curation Page
Triplosensitivity

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
5q23.2
Sequence:
Chromosome: 5; NC_000005.10 (126776623..126837020)
Total number of exons:
12

Links

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