NM_023110.3(FGFR1):c.2187-19C>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002500160.1
Allele description [Variation Report for NM_023110.3(FGFR1):c.2187-19C>T]
NM_023110.3(FGFR1):c.2187-19C>T
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
-
4983[HGNC] (64)
ClinVar
-
LOC6555359 [Drosophila erecta]
LOC6555359 [Drosophila erecta]Gene ID:6555359Gene
-
85greater than, with dotqqtest19 congruent with dash, verticalCol... (0)
85greater than, with dotqqtest19 congruent with dash, verticalColon, two colonsSearchBioProject
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78<qqtest19> measured angle nmid inverted perpendicular (0)
BioProject
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99 similar qqtest19 ratioclockwise integral curly logical ornot g... (0)
99 similar qqtest19 ratioclockwise integral curly logical ornot gt-or-eq, slantedSearchMedGen
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Last Updated: Mar 5, 2024