Variant (rsID / SNP)

rs78194216

rs78194216 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,251,691. Clinical significance in the table: Pathogenic.

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Reference-table entries

CFTRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:117251691
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)
Allele change: Missense_R1066C

Associated conditions / phenotypes

Cystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Hereditary pancreatitis|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.