NM_020639.3(RIPK4):c.*1361T>A AND Bartsocas-Papas syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000396320.5
Allele description [Variation Report for NM_020639.3(RIPK4):c.*1361T>A]
NM_020639.3(RIPK4):c.*1361T>A
Condition(s)
- Name:
- Bartsocas-Papas syndrome 1
- Synonyms:
- PTERYGIUM, POPLITEAL, LETHAL TYPE; Popliteal pterygium syndrome lethal type; MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009901; MedGen: C1849718; Orphanet: 1234; OMIM: 263650
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Homo sapiens uncharacterized LOC102724434 (LOC102724434), transcript variant 3, ...
Homo sapiens uncharacterized LOC102724434 (LOC102724434), transcript variant 3, long non-coding RNAgi|756141059|ref|NR_130923.1|Nucleotide
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RecName: Full=Probable chorismate pyruvate-lyase; Short=CL; Short=CPL
RecName: Full=Probable chorismate pyruvate-lyase; Short=CL; Short=CPLgi|81636915|sp|Q9CMB5.1|UBIC_PASMUProtein
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Last Updated: Aug 25, 2024