NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000703651.16
Allele description [Variation Report for NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile)]
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile)
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: Sep 29, 2024