NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) AND Progressive familial intrahepatic cholestasis type 3
- Germline classification:
- no classifications from unflagged records (1 submission)
- Last evaluated:
- Jul 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000190560.7
Allele description [Variation Report for NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)]
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
Condition(s)
- Name:
- Progressive familial intrahepatic cholestasis type 3
- Synonyms:
- Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase; MDR3 deficiency; Low Gamma-GT Familial Intrahepatic Cholestasis
- Identifiers:
- MONDO: MONDO:0011214; MedGen: C1865643; Orphanet: 79305; OMIM: 602347
-
Chondrostoma knerii voucher MNCN BOS54 recombination activating protein I (RAG1)...
Chondrostoma knerii voucher MNCN BOS54 recombination activating protein I (RAG1) gene, partial cdsgi|307090778|gb|HM560397.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 69882678) (0)
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Profile neighbors for GEO Profiles (Select 69873183) (199)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 69902332) (199)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 123013325) (19)
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See more...Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000245567 | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine - CSER-MedSeq | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (LMM Criteria) | Uncertain significance (Aug 22, 2014) | germline | clinical testing |
Last Updated: Oct 26, 2024