Variant (rsID / SNP)

rs398123159

rs398123159 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FH. Location: chromosome 1, position 241,667,430. 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: 1:241667430
Cytoband: 1q43
HGVS: NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
Allele change: Missense_N340K

Associated conditions / phenotypes

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

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.