NM_000751.3(CHRND):c.*144_*145insAG AND Autosomal recessive multiple pterygium syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000396956.5
Allele description [Variation Report for NM_000751.3(CHRND):c.*144_*145insAG]
NM_000751.3(CHRND):c.*144_*145insAG
Condition(s)
- Name:
- Autosomal recessive multiple pterygium syndrome
- Synonyms:
- MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; Multiple pterygium syndrome Escobar type; Multiple pterygium syndrome nonlethal type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009926; MedGen: C0265261; Orphanet: 2990; OMIM: 265000
Assertion and evidence details
Last Updated: Apr 9, 2023