NM_001114753.3(ENG):c.606C>T (p.Ala202=) AND Hereditary hemorrhagic telangiectasia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001446155.7
Allele description [Variation Report for NM_001114753.3(ENG):c.606C>T (p.Ala202=)]
NM_001114753.3(ENG):c.606C>T (p.Ala202=)
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
-
C1orf198 AND (alive[prop]) (1016)
Gene
-
palmitoyltransferase ZDHHC7 [Mus musculus]
palmitoyltransferase ZDHHC7 [Mus musculus]gi|19527186|ref|NP_598728.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024