NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) AND MASS syndrome
- Germline classification:
- Likely benign (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:
- RCV000307321.6
Allele description [Variation Report for NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)]
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
Condition(s)
-
Quercus lobata isolate:SW786
Quercus lobata isolate:SW786Quercus lobata isolate:SW786 Genome sequencing and assemblyBioProject
-
BioProject Links for Nucleotide (Select 1863590514) (1)
BioProject
-
Landau-Kleffner syndrome
Landau-Kleffner syndromeMedGen
-
MedGen for Gene (Select 2903) (1)
MedGen
-
Homo sapiens glutamate ionotropic receptor NMDA type subunit 2A (GRIN2A), transc...
Homo sapiens glutamate ionotropic receptor NMDA type subunit 2A (GRIN2A), transcript variant 1, mRNAgi|1519242957|ref|NM_001134407.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024