NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) AND Hypogonadotropic hypogonadism 2 with or without anosmia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000289001.5
Allele description [Variation Report for NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu)]
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu)
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
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H.sapiens mRNA for CD190 protein
H.sapiens mRNA for CD190 proteingi|2370163|emb|Y10508.1|Nucleotide
-
cadherin-16 isoform 3 precursor [Mus musculus]
cadherin-16 isoform 3 precursor [Mus musculus]gi|357933654|ref|NP_001239557.1|Protein
-
RecName: Full=Major urinary protein; Short=MUP; AltName: Full=Allergen Rat n I; ...
RecName: Full=Major urinary protein; Short=MUP; AltName: Full=Allergen Rat n I; AltName: Full=Alpha(2)-euglobulin; AltName: Full=Alpha-2u-globulin; AltName: Full=alpha-2u globulin PGCL1; AltName: Allergen=Rat n 1; Contains: RecName: Full=15.5 kDa fatty acid-binding protein; Short=15.5 kDa FABP; Flags: Precursorgi|127533|sp|P02761.1|MUP_RATProtein
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Homo sapiens chromosome 7 clone RP11-178P2, complete sequence
Homo sapiens chromosome 7 clone RP11-178P2, complete sequencegi|9802820|gnl|UWGC|djs484|gb|AC009 1|AC009531Nucleotide
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Last Updated: May 1, 2024