NM_001377.3(DYNC2H1):c.195+1G>A AND Jeune thoracic dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003749288.1
Allele description
NM_001377.3(DYNC2H1):c.195+1G>A
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
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Cyanistes caeruleus]
cytochrome oxidase subunit 1, partial (mitochondrion) [Cyanistes caeruleus]gi|257154386|gb|ACV44906.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024