NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly) AND Atrial septal defect 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001322934.7
Allele description [Variation Report for NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly)]
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly)
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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Drosophila melanogaster wampa (wam), mRNA
Drosophila melanogaster wampa (wam), mRNAgi|281362361|ref|NM_142882.2|Nucleotide
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RecName: Full=Myosin-8; AltName: Full=Developmental myosin heavy chain neonatal;...
RecName: Full=Myosin-8; AltName: Full=Developmental myosin heavy chain neonatal; AltName: Full=Myosin heavy chain 8; AltName: Full=Myosin heavy chain, skeletal muscle, perinatal; Short=MyHC-perinatalgi|122132085|sp|Q076A4.1|MYH8_CANLFProtein
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045402_1545_2490 3' ESTs from HeLa cell Homo sapiens cDNA 3', mRNA sequence
045402_1545_2490 3' ESTs from HeLa cell Homo sapiens cDNA 3', mRNA sequencegi|126378116|gnl|dbEST|43683177|gb| 256.1|Nucleotide
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Last Updated: Sep 29, 2024