NM_000138.5(FBN1):c.*1484C>T AND Geleophysic dysplasia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000302470.5
Allele description [Variation Report for NM_000138.5(FBN1):c.*1484C>T]
NM_000138.5(FBN1):c.*1484C>T
Condition(s)
-
nucleolar protein 16 isoform 7 [Homo sapiens]
nucleolar protein 16 isoform 7 [Homo sapiens]gi|604723310|ref|NP_001278237.1|Protein
-
Rattus norvegicus melanoma cell adhesion molecule, mRNA (cDNA clone MGC:91447 IM...
Rattus norvegicus melanoma cell adhesion molecule, mRNA (cDNA clone MGC:91447 IMAGE:7105099), complete cdsgi|47718001|gb|BC070916.1|Nucleotide
-
yf85g08.s1 Soares infant brain 1NIB Homo sapiens cDNA clone IMAGE:29353 3', mRNA...
yf85g08.s1 Soares infant brain 1NIB Homo sapiens cDNA clone IMAGE:29353 3', mRNA sequencegi|816609|gnl|dbEST|224772|gb|R4129Nucleotide
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Last Updated: Mar 30, 2024