NM_020800.3(IFT80):c.2223+4_2223+7del AND Jeune thoracic dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000634175.7
Allele description [Variation Report for NM_020800.3(IFT80):c.2223+4_2223+7del]
NM_020800.3(IFT80):c.2223+4_2223+7del
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
-
Sillago aeolus voucher GOU100998 cytochrome c oxidase subunit I (COX1) gene, par...
Sillago aeolus voucher GOU100998 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrialgi|2450719957|gb|OQ553486.1|Nucleotide
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FAR2 fatty acyl-CoA reductase 2 [Macaca mulatta]
FAR2 fatty acyl-CoA reductase 2 [Macaca mulatta]Gene ID:710740Gene
-
Dux4 double homeobox 4 [Rattus norvegicus]
Dux4 double homeobox 4 [Rattus norvegicus]Gene ID:306226Gene
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Last Updated: Nov 11, 2023