Variant (rsID / SNP)
rs1060499629
rs1060499629 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FH. Location: chromosome 1, position 241,680,472. Clinical significance in the table: Pathogenic.
Reference-table entries
FHPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 1:241680472
- Cytoband
- 1q43
- HGVS
- NM_000143.4(FH):c.267+1_267+10del
Associated conditions / phenotypes
Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.