Variant (rsID / SNP)

rs863224007

rs863224007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FH. Location: chromosome 1, position 241,665,790. 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: 1:241665790
Cytoband: 1q43
HGVS: NM_000143.4(FH):c.1189G>A (p.Gly397Arg)
Allele change: Missense_G397R

Associated conditions / phenotypes

Fumarase deficiency|Hereditary leiomyomatosis and renal cell cancer

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.