Variant (rsID / SNP)

rs397508183

rs397508183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,188,725. Clinical significance in the table: Pathogenic.

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Reference-table entries

CFTRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:117188725
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter)
Allele change: Nonsense_Q414X

Associated conditions / phenotypes

Cystic fibrosis|CFTR-related disorders

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.