NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) AND FBN1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 10, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004541023.2
Allele description [Variation Report for NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)]
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
Condition(s)
- Name:
- FBN1-related disorder
- Identifiers:
-
Homologene neighbors for GEO Profiles (Select 105438456) (0)
GEO Profiles
-
Schizosaccharomyces pombe strain 972h- genome assembly, chromosome: I
Schizosaccharomyces pombe strain 972h- genome assembly, chromosome: Igi|162312575|ref|NC_003424.3||gnl|A F_000002945.2|INucleotide
-
OMIM Links for GEO Profiles (Select 49006425) (2)
OMIM
-
Gene Links for GEO Profiles (Select 66727782) (1)
Gene
-
PIG2 putative protein phosphatase regulator PIG2 [Saccharomyces cerevisiae S288C...
PIG2 putative protein phosphatase regulator PIG2 [Saccharomyces cerevisiae S288C]Gene ID:854766Gene
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Last Updated: Oct 26, 2024