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Variant (rsID / SNP)

rs77101217

CFTR

rs77101217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,199,602. 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
7:117199602
Cytoband
7q31.2
HGVS
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)
Allele change
Nonsense_Q493X

Associated conditions / phenotypes

Cystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Congenital bilateral aplasia of vas deferens from CFTR mutation

Public references

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