CFTR NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)

CI-VAR-00006823Explore in graph →p.Asp1152HisNM_000492.4:c.3454G>CClinVar 35867 rs75541969

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
35867	drug response	reviewed by expert panel	3	Cystic fibrosis; ivacaftor response - Efficacy; Congenital bilateral aplasia of vas deferens from CFTR mutation; CFTR-related disorder; Male infertility; Obstructive azoospermia; Bronchiectasis with or without elevated sweat chloride 1; Hereditary pancreatitis; Melanoma-pancreatic cancer syndrome	germline	41	Mar 24, 2021	clinvar