Variant (rsID / SNP)
rs4647904
rs4647904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR1. Location: chromosome 8, position 38,271,547. Clinical significance in the table: Benign.
Reference-table entries
FGFR1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:38271547
- Cytoband
- 8p11.23
- HGVS
- NM_023110.3(FGFR1):c.2187-6C>T
- Allele change
- Silent
Associated conditions / phenotypes
Osteoglophonic dysplasia|Craniosynostosis syndrome|Trigonocephaly 1|Hypogonadotropic hypogonadism 2 with or without anosmia|Hypogonadotropic hypogonadism 2 with or without anosmia|Pfeiffer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.