NM_004387.4(NKX2-5):c.234A>T (p.Ser78=) AND Atrial septal defect 7
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 28, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001473674.7
Allele description [Variation Report for NM_004387.4(NKX2-5):c.234A>T (p.Ser78=)]
NM_004387.4(NKX2-5):c.234A>T (p.Ser78=)
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
-
wdr74 WD repeat domain 74 [Danio rerio]
wdr74 WD repeat domain 74 [Danio rerio]Gene ID:558996Gene
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Last Updated: Sep 29, 2024