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HYMAI hydatidiform mole associated and imprinted (non-protein coding)

Also known as: NCRNA00020

Summary

This gene, which encodes a non-protein coding transcript, exhibits differential DNA methylation between the two parental alleles at an adjacent CpG island, and is expressed only from the paternal allele. It is believed to be one of the causative genes for transient neonatal diabetes mellitus (TNDM), which is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. [provided by RefSeq, Oct 2010]

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-09-06)

ISCA Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-09-06)

ISCA Genome Curation Page

Genomic context

Location:
6q24.2
Sequence:
Chromosome: 6; NC_000006.12 (144002886..144008730, complement)
Total number of exons:
2

Links

  • ClinVar
    Related medical variations
  • dbVar
    Link from Gene to dbVar
  • MedGen
    Related information in MedGen
  • OMIM
    Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
  • PubMed (OMIM)
    Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
  • RefSeq RNAs
    Link to Nucleotide RefSeq RNAs
  • RefSeqGene
    Link to Nucleotide RefSeqGenes
  • SNP: GeneView
    SNPs linked from GeneView

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