NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly) AND Weill-Marchesani syndrome
- Germline classification:
- Uncertain significance (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:
- RCV001120302.4
Allele description [Variation Report for NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly)]
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly)
Condition(s)
-
oo83g12.x5 NCI_CGAP_Kid5 Homo sapiens cDNA clone IMAGE:1572838 3', mRNA sequence
oo83g12.x5 NCI_CGAP_Kid5 Homo sapiens cDNA clone IMAGE:1572838 3', mRNA sequencegi|5054421|gnl|dbEST|2642557|gb|AI7 .1|Nucleotide
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Homo sapiens claudin 2, mRNA (cDNA clone MGC:20191 IMAGE:4645075), complete cds
Homo sapiens claudin 2, mRNA (cDNA clone MGC:20191 IMAGE:4645075), complete cdsgi|15680158|gb|BC014424.1|Nucleotide
-
Protein Links for Nucleotide (Select 584362687) (1049)
Protein
-
MIER3 MIER family member 3 [Homo sapiens]
MIER3 MIER family member 3 [Homo sapiens]Gene ID:166968Gene
-
Gene Links for GEO Profiles (Select 71994276) (1)
Gene
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Last Updated: Aug 18, 2024