Variant (rsID / SNP)

rs151073129

rs151073129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,176,711. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CFTRBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:117176711
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)
Allele change: Missense_I285F

Associated conditions / phenotypes

Cystic fibrosis|Hereditary pancreatitis

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.