NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002475960.1
Allele description [Variation Report for NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys)]
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys)
Condition(s)
- Name:
- Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
- Synonyms:
- Kallmann syndrome 2; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007844; MedGen: C1563720; Orphanet: 478; OMIM: 147950
- Name:
- Jackson-Weiss syndrome (JWS)
- Synonyms:
- Craniosynostosis, midfacial hypoplasia, and foot abnormalities
- Identifiers:
- MONDO: MONDO:0007400; MedGen: C0795998; Orphanet: 1540; OMIM: 123150
- Name:
- Pfeiffer syndrome (ACS5)
- Synonyms:
- ACS V; Pfeiffer type acrocephalosyndactyly; Acrocephalosyndactyly, type 5
- Identifiers:
- MONDO: MONDO:0007043; MedGen: C0220658; Orphanet: 710; OMIM: 101600
- Name:
- Hartsfield-Bixler-Demyer syndrome (HRTFDS)
- Synonyms:
- Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate; Hartsfield syndrome
- Identifiers:
- MONDO: MONDO:0014196; MedGen: C1845146; Orphanet: 2117; OMIM: 615465
- Name:
- Osteoglophonic dysplasia (OGD)
- Synonyms:
- Osteoglophonic dwarfism; Fairbank-Keats syndrome
- Identifiers:
- MONDO: MONDO:0008150; MedGen: C0432283; Orphanet: 2645; OMIM: 166250
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Mus musculus homeo box B13, mRNA (cDNA clone MGC:58938 IMAGE:6530542), complete ...
Mus musculus homeo box B13, mRNA (cDNA clone MGC:58938 IMAGE:6530542), complete cdsgi|30046895|gb|BC051087.1|Nucleotide
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Conchocarpus ucayalinus (1)
Taxonomy
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Chromosome neighbors for GEO Profiles (Select 66722818) (20)
GEO Profiles
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Clioquinol effect on yeast
Clioquinol effect on yeastAccession: GDS3751GEO DataSets
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Related DataSets for GEO Profiles (Select 66722717) (1)
GEO DataSets
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Last Updated: Sep 29, 2024