NM_172351.3(CD46):c.1013C>T (p.Ala338Val) AND Atypical hemolytic-uremic syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Sep 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002294251.3
Allele description [Variation Report for NM_172351.3(CD46):c.1013C>T (p.Ala338Val)]
NM_172351.3(CD46):c.1013C>T (p.Ala338Val)
Condition(s)
- Name:
- Atypical hemolytic-uremic syndrome
- Synonyms:
- Atypical HUS
- Identifiers:
- MONDO: MONDO:0016244; MedGen: C2931788
Assertion and evidence details
Last Updated: Jun 17, 2024