NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys) AND Atrial septal defect 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001315155.8
Allele description [Variation Report for NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys)]
NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys)
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
-
TSA: Tetralonia malvae s7577_L_18360_0_a_3_6_l_1119 transcribed RNA sequence
TSA: Tetralonia malvae s7577_L_18360_0_a_3_6_l_1119 transcribed RNA sequencegi|1163965014|gb|GBNI01029296.1||gn :GBNI01|s7577_L_18360_0_a_3_6_l_1119Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024