NM_023110.3(FGFR1):c.921T>C (p.Tyr307=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001412074.6
Allele description [Variation Report for NM_023110.3(FGFR1):c.921T>C (p.Tyr307=)]
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=)
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
-
LOC108337984 [Vigna angularis]
LOC108337984 [Vigna angularis]Gene ID:108337984Gene
-
Tas2r109 taste receptor, type 2, member 109 [Mus musculus]
Tas2r109 taste receptor, type 2, member 109 [Mus musculus]Gene ID:387343Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024