NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) AND not specified
- Germline classification:
- Benign/Likely benign (4 submissions)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000117304.12
Allele description [Variation Report for NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)]
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
E3 ubiquitin-protein ligase RNF185 isoform 1 [Homo sapiens]
E3 ubiquitin-protein ligase RNF185 isoform 1 [Homo sapiens]gi|31542783|ref|NP_689480.2|Protein
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Homo sapiens bactericidal/permeability-increasing protein precursor (BPI) mRNA, ...
Homo sapiens bactericidal/permeability-increasing protein precursor (BPI) mRNA, complete cdsgi|89277237|gb|DQ414688.1|Nucleotide
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PMC Links for GEO Profiles (Select 75502775) (8)
PMC
-
PMC Links for GEO Profiles (Select 38062247) (63)
PMC
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See more...Assertion and evidence details
Last Updated: May 7, 2024