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Variant (rsID / SNP)

rs41419545

FLCN

rs41419545 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLCN. Location: chromosome 17, position 17,118,598. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FLCNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:17118598
Cytoband
17p11.2
HGVS
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
Allele change
Missense_A445T

Associated conditions / phenotypes

Carcinoma of colon|Hereditary cancer-predisposing syndrome|Multiple fibrofolliculomas|Familial spontaneous pneumothorax|Colorectal cancer

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.