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Variant (rsID / SNP)

rs77543610

FGFR2

rs77543610 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR2. Location: chromosome 10, position 123,279,674. 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
10:123279674
Cytoband
10q26.13
HGVS
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
Allele change
Missense_P253R

Associated conditions / phenotypes

Acrocephalosyndactyly type I|Head and neck neoplasm|FGFR2 related craniosynostosis|11 conditions|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

Public references

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