Variant (rsID / SNP)

rs186746130

rs186746130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR1. Location: chromosome 8, position 38,283,643. Clinical significance in the table: Likely benign.

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Reference-table entries

FGFR1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:38283643
Cytoband: 8p11.23
HGVS: NM_023110.3(FGFR1):c.742G>A (p.Val248Met)
Allele change: Missense_V157M

Associated conditions / phenotypes

Craniosynostosis syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.