Variant (rsID / SNP)
rs200776757
rs200776757 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR1. Location: chromosome 8, position 38,275,808. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FGFR1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:38275808
- Cytoband
- 8p11.23
- HGVS
- NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile)
- Allele change
- Missense_M363I
Associated conditions / phenotypes
Osteoglophonic dysplasia|Trigonocephaly 1|Craniosynostosis syndrome|Craniosynostosis, nonspecific|Hypogonadotropic hypogonadism 2 with or without anosmia|Hypogonadotropic hypogonadism 2 with or without anosmia|Pfeiffer syndrome|Pfeiffer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.