Variant (rsID / SNP)

rs121909015

rs121909015 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,282,647. 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: 7:117282647
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)
Allele change: Missense_Q1291H

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.