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Variant (rsID / SNP)

rs150212784

CFTR

rs150212784 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,251,649. Clinical significance in the table: drug response.

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Reference-table entries

CFTRDrug response
Clinical significance (as recorded)
drug response
Variant type
single nucleotide variant
Chromosome / position
7:117251649
Cytoband
7q31.2
HGVS
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
Allele change
Missense_F1052V

Associated conditions / phenotypes

Cystic fibrosis|ivacaftor response - Efficacy|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Inborn genetic diseases|CFTR-related disorders

Public references

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