NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) AND Atrial septal defect 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000525369.4
Allele description
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)
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
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Napeanthus bracteatus voucher J.L.Clark 8744 internal transcribed spacer 1, 5.8S...
Napeanthus bracteatus voucher J.L.Clark 8744 internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequencegi|73763183|gb|DQ070531.1|Nucleotide
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Last Updated: May 1, 2024