NM_004387.4(NKX2-5):c.548A>G (p.Lys183Arg) AND Atrial septal defect 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002003961.6
Allele description [Variation Report for NM_004387.4(NKX2-5):c.548A>G (p.Lys183Arg)]
NM_004387.4(NKX2-5):c.548A>G (p.Lys183Arg)
Condition(s)
- Name:
- Atrial septal defect 7
- Synonyms:
- Atrial septal defect with atrioventricular conduction defects; ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; Atrial septal defect 7 with or without atrioventricular conduction defects; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007173; MedGen: C3276096; Orphanet: 1479; OMIM: 108900
Assertion and evidence details
Last Updated: Sep 29, 2024