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Variant (rsID / SNP)

rs200796606

FH

rs200796606 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FH. Location: chromosome 1, position 241,665,852. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FHConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:241665852
Cytoband
1q43
HGVS
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)
Allele change
Missense_Q376P

Associated conditions / phenotypes

Fumarase deficiency|Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer|Hepatocellular carcinoma

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.