NM_005199.5(CHRNG):c.663G>A (p.Ala221=) AND Autosomal recessive multiple pterygium syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001143347.4
Allele description [Variation Report for NM_005199.5(CHRNG):c.663G>A (p.Ala221=)]
NM_005199.5(CHRNG):c.663G>A (p.Ala221=)
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
-
Abbreviations - Pulmonary Arterial Hypertension: Screening, Management, and Trea...
Abbreviations - Pulmonary Arterial Hypertension: Screening, Management, and Treatment
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Last Updated: Sep 29, 2024