NM_000111.3(SLC26A3):c.616T>C (p.Ser206Pro) AND Congenital secretory diarrhea, chloride type
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000049416.1
Allele description [Variation Report for NM_000111.3(SLC26A3):c.616T>C (p.Ser206Pro)]
NM_000111.3(SLC26A3):c.616T>C (p.Ser206Pro)
Condition(s)
- Name:
- Congenital secretory diarrhea, chloride type (DIAR1)
- Synonyms:
- Congenital chloride diarrhea; Diarrhea 1, secretory chloride, congenital; Chloridorrhea, congenital; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008964; MedGen: C0267662; OMIM: 214700
Assertion and evidence details
Last Updated: Apr 23, 2022
SCV000081849