NM_000138.5(FBN1):c.4177_4199del (p.Glu1393fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000756142.9
Allele description [Variation Report for NM_000138.5(FBN1):c.4177_4199del (p.Glu1393fs)]
NM_000138.5(FBN1):c.4177_4199del (p.Glu1393fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
29.7 kDa protein [Human adenovirus E4]
29.7 kDa protein [Human adenovirus E4]gi|1756480466|gb|QFF92314.1|Protein
-
DA754072 NT2RP7 Homo sapiens cDNA clone NT2RP7020411 5', mRNA sequence
DA754072 NT2RP7 Homo sapiens cDNA clone NT2RP7020411 5', mRNA sequencegi|82383975|gnl|dbEST|33843256|dbj| 072.1|Nucleotide
-
144568[geneid] (1628)
ClinVar
-
PREDICTED: Bison bison bison laminin, alpha 1 (LAMA1), transcript variant X2, mR...
PREDICTED: Bison bison bison laminin, alpha 1 (LAMA1), transcript variant X2, mRNAgi|742199021|ref|XM_010859097.1|Nucleotide
-
Homo sapiens small G protein mRNA, complete cds; nuclear gene for mitochondrial ...
Homo sapiens small G protein mRNA, complete cds; nuclear gene for mitochondrial productgi|32395562|gb|AY207375.1|Nucleotide
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Last Updated: Jun 23, 2024