Variant (rsID / SNP)

rs78311289

rs78311289 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR3. Location: chromosome 4, position 1,807,889. Clinical significance in the table: Pathogenic.

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Reference-table entries

FGFR3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:1807889
Cytoband: 4p16.3
HGVS: NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)
Allele change: Missense_K651E

Associated conditions / phenotypes

Multiple myeloma|Spermatocytic seminoma|Thanatophoric dysplasia, type 2|Carcinoma

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.