Variant (rsID / SNP)

rs772190176

rs772190176 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FH. Location: chromosome 1, position 241,669,390. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FHUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:241669390
Cytoband: 1q43
HGVS: NM_000143.4(FH):c.817G>A (p.Ala273Thr)
Allele change: Missense_A273T

Associated conditions / phenotypes

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.