Variant (rsID / SNP)

rs121913121

rs121913121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FH. Location: chromosome 1, position 241,676,961. 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: 1:241676961
Cytoband: 1q43
HGVS: NM_000143.4(FH):c.320A>C (p.Asn107Thr)
Allele change: Missense_N107T

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.