NM_004387.4(NKX2-5):c.246T>C (p.Cys82=) AND Atrial septal defect 7
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 6, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002639045.3
Allele description [Variation Report for NM_004387.4(NKX2-5):c.246T>C (p.Cys82=)]
NM_004387.4(NKX2-5):c.246T>C (p.Cys82=)
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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Homo sapiens chromosome 21 open reading frame 66 (C21orf66), transcript variant ...
Homo sapiens chromosome 21 open reading frame 66 (C21orf66), transcript variant 4, mRNAgi|22035563|ref|NM_058191.2|Nucleotide
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Zea mays uncharacterized LOC100274182 (LOC100274182), mRNA
Zea mays uncharacterized LOC100274182 (LOC100274182), mRNAgi|226505463|ref|NM_001148556.1|Nucleotide
-
Tfp1p [Saccharomyces cerevisiae JAY291]
Tfp1p [Saccharomyces cerevisiae JAY291]gi|256270281|gb|EEU05498.1||gnl|WGS |C1Q_04144Protein
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Last Updated: Sep 29, 2024