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Variant (rsID / SNP)

rs73215912

CFTR

rs73215912 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,182,078. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CFTRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:117182078
Cytoband
7q31.2
HGVS
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
Allele change
Missense_L375F

Associated conditions / phenotypes

Cystic fibrosis|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.