NM_001365276.2(TNXB):c.496A>C (p.Thr166Pro) AND multiple conditions
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002508966.1
Allele description [Variation Report for NM_001365276.2(TNXB):c.496A>C (p.Thr166Pro)]
NM_001365276.2(TNXB):c.496A>C (p.Thr166Pro)
Condition(s)
- Name:
- Ehlers-Danlos syndrome due to tenascin-X deficiency (EDSCLL1)
- Synonyms:
- Ehlers-Danlos-like syndrome due to tenascin-X deficiency; EDS due to TNX deficiency; TNX deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011670; MedGen: C1848029; Orphanet: 230839; OMIM: 606408
- Name:
- Vesicoureteral reflux (VUR)
- Synonyms:
- Vesicoureteric reflux; Vesico-Ureteral Reflux
- Identifiers:
- MONDO: MONDO:0006007; MedGen: C0042580; Human Phenotype Ontology: HP:0000076
Assertion and evidence details
Last Updated: Mar 10, 2024