NM_024753.5(TTC21B):c.549T>C (p.Gly183=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002058338.6
Allele description [Variation Report for NM_024753.5(TTC21B):c.549T>C (p.Gly183=)]
NM_024753.5(TTC21B):c.549T>C (p.Gly183=)
Condition(s)
- Name:
- Jeune thoracic dystrophy (ATD1)
- Synonyms:
- Jeune syndrome; Infantile thoracic dystrophy; Thoracic pelvic phalangeal dystrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018770; MedGen: C0265275; OMIM: PS208500
- Name:
- Nephronophthisis
- Synonyms:
- juvenile nephronophthisis
- Identifiers:
- MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090
Assertion and evidence details
Last Updated: Sep 29, 2024