NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys) AND Jeune thoracic dystrophy
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Jun 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000516047.2
Allele description [Variation Report for NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys)]
NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys)
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
Assertion and evidence details
Last Updated: Sep 17, 2022