NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003804839.2
Allele description [Variation Report for NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg)]
NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg)
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
-
Homo sapiens chemokine (C-X-C motif) ligand 2 (CXCL2), mRNA
Homo sapiens chemokine (C-X-C motif) ligand 2 (CXCL2), mRNAgi|142363029|ref|NM_002089.2|Nucleotide
-
Rattus norvegicus transducer of ErbB-2.1 (Tob1), mRNA
Rattus norvegicus transducer of ErbB-2.1 (Tob1), mRNAgi|82617613|ref|NM_133317.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024