Variant (rsID / SNP)

rs139468767

rs139468767 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,232,074. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CFTRPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:117232074
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
Allele change: Missense_I618T

Associated conditions / phenotypes

Cystic fibrosis|Inborn genetic diseases|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation

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.