NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002046772.4
Allele description [Variation Report for NM_023110.3(FGFR1):c.2251G>A (p.Val751Met)]
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met)
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 ribosomal protein L36a (RPL36A), transcript variant 1, mRNA
Homo sapiens ribosomal protein L36a (RPL36A), transcript variant 1, mRNAgi|316983123|ref|NM_021029.5|Nucleotide
-
PubChem Substance Links for Gene (Select 562370) (4)
PubChem Substance
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024