NM_005199.5(CHRNG):c.55+5G>A AND Autosomal recessive multiple pterygium syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003234968.1
Allele description [Variation Report for NM_005199.5(CHRNG):c.55+5G>A]
NM_005199.5(CHRNG):c.55+5G>A
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: Jun 24, 2023