Variant (rsID / SNP)

rs398123166

rs398123166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FH. Location: chromosome 1, position 241,672,081. 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: 1:241672081
Cytoband: 1q43
HGVS: NM_000143.4(FH):c.560C>G (p.Ser187Ter)
Allele change: Nonsense_S187X

Associated conditions / phenotypes

Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency|Hereditary cancer-predisposing 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.