Variant (rsID / SNP)

rs863224010

rs863224010 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FH. Location: chromosome 1, position 241,661,267. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FHPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:241661267
Cytoband: 1q43
HGVS: NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)
Allele change: Missense_Y465C

Associated conditions / phenotypes

Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency

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.