NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) AND Familial dysautonomia
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Jan 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000006460.4
Allele description [Variation Report for NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)]
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)
Condition(s)
- Name:
- Familial dysautonomia (HSAN3)
- Synonyms:
- NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN III; Hereditary sensory and autonomic neuropathy 3; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009131; MedGen: C0013364; Orphanet: 1764; OMIM: 223900
Assertion and evidence details
Last Updated: Jan 13, 2025