Variant (rsID / SNP)

rs143483053

rs143483053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,122,436. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FLCNBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:17122436
Cytoband: 17p11.2
HGVS: NM_144997.7(FLCN):c.959G>A (p.Arg320Gln)
Allele change: Missense_R320Q

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Multiple fibrofolliculomas|Familial spontaneous pneumothorax

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.