WebHGNC:3688 FGFR1 MIM 101600 phenotype 123150 phenotype 136350 gene 147950 phenotype 166250 phenotype More MIM links VEuPathDB HostDB:ENSG00000077782 neXtProt NX_P11362 Subcellular Location UniProt Annotation GO Annotation Cell membrane ; Single-pass type I membrane protein Nucleus Cytoplasm, cytosol … WebJan 26, 2024 · In a cohort of 386 unrelated individuals with congenital hypogonadotropic hypogonadism (CHH), 199 of whom were anosmic and 187 normosmic, many of whom were known to harbor mutations in previously identified HH-associated genes, Miraoui et al. (2013) analyzed 7 genes involved in the FGF8 ()-FGFR1 network and identified 3 HH …
FGFR1 mutations in Kallmann syndrome - PubMed
WebGene. Location. Disorder. Inheritance pattern. Score. Conclusion.; Isolated infertility: ADGRG2: Xp22.13: Congenital bilateral absence of the vas deferens; OMIM:300985 WebSince its initial discovery, numerous mutations of FGFR1 have been described in several functional domains of the receptor. Genotype-phenotype correlations have shown that some clinical features associated with KS, such as loss of nasal cartilage, hearing impairment, and anomalies of the limbs seem to be mainly associated with KAL2 mutations. how to navigate the va system
FGFR1 gene with submissions organized by classifications - The …
WebFGFR1. General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project. Official gene symbol, which is typically a short form of the gene name, according to HGNC. Full gene name according to HGNC. WebGene. FGFR1. FGFR1 Amplification is present in 2.34% of AACR GENIE cases, with breast invasive ductal carcinoma, invasive breast carcinoma, breast invasive lobular carcinoma, … WebBecause the FGFR1 gene is located in that region and because mutations in other FGFR genes had been demonstrated in skeletal dysplasias (FGFR2 ( 176943) in Crouzon and … how to navigate the nyc subway