NM_004387.4(NKX2-5):c.223C>G (p.Arg75Gly) AND Atrial septal defect 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001907978.4
Allele description [Variation Report for NM_004387.4(NKX2-5):c.223C>G (p.Arg75Gly)]
NM_004387.4(NKX2-5):c.223C>G (p.Arg75Gly)
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
-
Protease, serine, 12 neurotrypsin (motopsin) [Mus musculus]
Protease, serine, 12 neurotrypsin (motopsin) [Mus musculus]gi|21619263|gb|AAH31429.1|Protein
-
Spc24 SPC24 component of NDC80 kinetochore complex [Rattus norvegicus]
Spc24 SPC24 component of NDC80 kinetochore complex [Rattus norvegicus]Gene ID:363028Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024