Variant (rsID / SNP)

rs121918510

rs121918510 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR2. Location: chromosome 10, position 123,276,955. 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: 10:123276955
Cytoband: 10q26.13
HGVS: NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala)
Allele change: Missense_D321A

Associated conditions / phenotypes

Pfeiffer 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.