NM_001077653.2(TBX20):c.995del (p.Pro332fs) AND Hypoplastic left heart syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000656080.2
Allele description [Variation Report for NM_001077653.2(TBX20):c.995del (p.Pro332fs)]
NM_001077653.2(TBX20):c.995del (p.Pro332fs)
Condition(s)
- Name:
- Hypoplastic left heart syndrome
- Synonyms:
- Hypoplastic left heart
- Identifiers:
- MONDO: MONDO:0004933; MedGen: C0152101; Orphanet: 2248; OMIM: PS241550; Human Phenotype Ontology: HP:0004383
Assertion and evidence details
Last Updated: May 16, 2025