NM_000138.5(FBN1):c.*2533C>A AND Geleophysic dysplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000378584.5
Allele description [Variation Report for NM_000138.5(FBN1):c.*2533C>A]
NM_000138.5(FBN1):c.*2533C>A
Condition(s)
-
Homo sapiens 3q27 BAC RP11-246B7 (Roswell Park Cancer Institute Human BAC Librar...
Homo sapiens 3q27 BAC RP11-246B7 (Roswell Park Cancer Institute Human BAC Library) complete sequencegi|5656676|gnl|bcmhgsc|project_hmfw or|gb|AC007488.15|Nucleotide
-
Homo sapiens FOSMID clone ABC12-46663800M24 from chromosome unknown, complete se...
Homo sapiens FOSMID clone ABC12-46663800M24 from chromosome unknown, complete sequencegi|256821038|gb|AC234917.3||gnl|wug C12-46663800M24Nucleotide
-
Homo sapiens cDNA FLJ60460 complete cds, moderately similar to Nuclear receptor-...
Homo sapiens cDNA FLJ60460 complete cds, moderately similar to Nuclear receptor-binding proteingi|194375951|dbj|AK293943.1|Nucleotide
-
Homo sapiens cDNA clone IMAGE:4801141
Homo sapiens cDNA clone IMAGE:4801141gi|22477281|gb|BC036591.1|Nucleotide
-
UI-H-BW1-ams-d-09-0-UI.s1 NCI_CGAP_Sub7 Homo sapiens cDNA clone IMAGE:3070912 3'...
UI-H-BW1-ams-d-09-0-UI.s1 NCI_CGAP_Sub7 Homo sapiens cDNA clone IMAGE:3070912 3', mRNA sequencegi|11598629|gnl|dbEST|7040815|gb|BF 0.1|Nucleotide
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Last Updated: Mar 30, 2024