NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter) AND Hereditary hemorrhagic telangiectasia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003096932.2
Allele description [Variation Report for NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)]
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)
Condition(s)
- Name:
- Hereditary hemorrhagic telangiectasia (HHT)
- Synonyms:
- Osler Weber Rendu syndrome; ORW disease; Osler-Rendu-Weber disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019180; MedGen: C0039445; OMIM: PS187300
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BioProject Links for BioSample (Select 1040876) (1)
BioProject
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Natural variation of histone modification and its impact on gene expression in r...
Natural variation of histone modification and its impact on gene expression in ratNatural variation of histone modification and its impact on gene expression in ratBioProject
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Last Updated: May 1, 2024