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Variant (rsID / SNP)

rs121918488

FGFR2

rs121918488 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR2. Location: chromosome 10, position 123,276,893. Clinical significance in the table: Pathogenic.

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Reference-table entries

FGFR2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:123276893
Cytoband
10q26.13
HGVS
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)
Allele change
Missense_C342R

Associated conditions / phenotypes

Crouzon syndrome|Jackson-Weiss syndrome|Pfeiffer syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|FGFR2 related craniosynostosis

Public references

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