Mutation Details for c.2997_3000delAATT
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cDNA Name
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c.2997_3000delAATT
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Protein Name
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p.Ile1000X
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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3129del4
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Other Details
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We believe that this mutation is a de novo mutation from the patients maternal chromosome. We have checked several CA repeats, and found completely agreement of any alleles in this family.
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Contributors
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Schwartz M,
Larsen P,
Palle AL,
Vedel G
1993-11-05
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Institute
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Section of Clinical Genetics
Copenhagen, Denmark
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Submitted Phenotype Details
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Reference
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Schwartz et al. (NL#59)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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