NM_023110.3(FGFR1):c.1888C>T (p.Leu630=) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001081619.6
Allele description [Variation Report for NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)]
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)
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
Assertion and evidence details
Last Updated: Mar 16, 2024