Variant (rsID / SNP)

rs756469140

rs756469140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FH. Location: chromosome 1, position 241,667,364. 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: Deletion
Chromosome / position: 1:241667364
Cytoband: 1q43
HGVS: NM_000143.4(FH):c.1083_1086del (p.Glu362fs)

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.