NM_000141.5(FGFR2):c.*1240A>C AND Crouzon 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:
- RCV001108229.5
Allele description [Variation Report for NM_000141.5(FGFR2):c.*1240A>C]
NM_000141.5(FGFR2):c.*1240A>C
Condition(s)
- Name:
- Crouzon syndrome
- Synonyms:
- CRANIOFACIAL DYSOSTOSIS, TYPE I; Crouzon craniofacial dysostosis; Crouzon disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007405; MeSH: D003394; MedGen: C0010273; Orphanet: 207; OMIM: 123500; Human Phenotype Ontology: HP:0004439
-
Mus musculus ankyrin repeat and SOCS box-containing 18 (Asb18), transcript varia...
Mus musculus ankyrin repeat and SOCS box-containing 18 (Asb18), transcript variant 3, non-coding RNAgi|1240431792|ref|NR_149309.1|Nucleotide
-
Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1, mRNA (cDNA cl...
Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1, mRNA (cDNA clone IMAGE:4636019)gi|48735008|gb|BC071975.1|Nucleotide
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Last Updated: Sep 16, 2024