NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) AND Crouzon syndrome
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000856813.2
Allele description [Variation Report for NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)]
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)
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
-
1q42.1 (0)
OMIM
-
Homo sapiens cDNA FLJ32323 fis, clone PROST2003674
Homo sapiens cDNA FLJ32323 fis, clone PROST2003674gi|16552406|dbj|AK056885.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024