NM_004387.4(NKX2-5):c.200C>T (p.Pro67Leu) AND Atrial septal defect 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001991449.3
Allele description [Variation Report for NM_004387.4(NKX2-5):c.200C>T (p.Pro67Leu)]
NM_004387.4(NKX2-5):c.200C>T (p.Pro67Leu)
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
-
RecName: Full=Polygalacturonase QRT3; Short=AtQRT3; Short=PG QRT3; AltName: Full...
RecName: Full=Polygalacturonase QRT3; Short=AtQRT3; Short=PG QRT3; AltName: Full=Pectinase QRT3; AltName: Full=Protein QUARTET 3; Flags: Precursorgi|75098717|sp|O49432.1|QRT3_ARATHProtein
-
PREDICTED: Arvicola amphibius phosphatidylinositol glycan anchor biosynthesis cl...
PREDICTED: Arvicola amphibius phosphatidylinositol glycan anchor biosynthesis class B (Pigb), transcript variant X3, mRNAgi|1949665176|ref|XM_038321346.1|Nucleotide
-
small integral membrane protein 22 isoform 2 [Homo sapiens]
small integral membrane protein 22 isoform 2 [Homo sapiens]gi|359385723|ref|NP_001240720.1|Protein
-
MULTISPECIES: hypothetical protein [Campylobacter]
MULTISPECIES: hypothetical protein [Campylobacter]gi|1845874951|ref|WP_171823816.1|Protein
-
Di-/tripeptide transporter [Campylobacter jejuni]
Di-/tripeptide transporter [Campylobacter jejuni]gi|2103871520|ref|WP_224328089.1|Protein
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Last Updated: Feb 28, 2024