NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr) AND Atrial septal defect 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 19, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002018435.6
Allele description [Variation Report for NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)]
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)
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
-
malate/lactate/ureidoglycolate dehydrogenase [Tatumella citrea]
malate/lactate/ureidoglycolate dehydrogenase [Tatumella citrea]gi|1199763358|gnl|PRJNA319878|A7K98 0|gb|ARU93363.1|Protein
-
SQSTM1 [Pongo abelii]
SQSTM1 [Pongo abelii]Gene ID:100172461Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024