NM_130468.4(CHST14):c.180C>T (p.Ile60=) AND Ehlers-Danlos syndrome, musculocontractural type
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002145857.5
Allele description [Variation Report for NM_130468.4(CHST14):c.180C>T (p.Ile60=)]
NM_130468.4(CHST14):c.180C>T (p.Ile60=)
Condition(s)
- Name:
- Ehlers-Danlos syndrome, musculocontractural type (EDSMC)
- Synonyms:
- ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS; DUNDAR SYNDROME; Adducted Thumb-Clubfoot Syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011142; MedGen: C1866294; Orphanet: 2953
Assertion and evidence details
Last Updated: Feb 20, 2024