NM_020975.6(RET):c.2522C>T (p.Pro841Leu) AND multiple conditions
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001535741.10
Allele description [Variation Report for NM_020975.6(RET):c.2522C>T (p.Pro841Leu)]
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)
Condition(s)
- Name:
- Hirschsprung disease, susceptibility to, 1
- Synonyms:
- Hirschsprung disease 1; HSCR 1; RET-Related Hirschsprung Disease
- Identifiers:
- MONDO: MONDO:0007723; MedGen: C3888239; Orphanet: 388; OMIM: 142623
- Name:
- Multiple endocrine neoplasia type 2A
- Synonyms:
- MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; Sipple syndrome; MEN 2A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008234; MeSH: D018813; MedGen: C0025268; Orphanet: 653; OMIM: 171400
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Last Updated: Oct 8, 2024