Variant (rsID / SNP)

rs121913120

rs121913120 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FH. Location: chromosome 1, position 241,676,980. Clinical significance in the table: Pathogenic.

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Reference-table entries

FHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:241676980
Cytoband: 1q43
HGVS: NM_000143.4(FH):c.301C>T (p.Arg101Ter)
Allele change: Nonsense_R101X

Associated conditions / phenotypes

Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome|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.