PAH NM_000277.3(PAH):c.1315+1G>A

CI-VAR-00005157Explore in graph →NM_000277.3:c.1315+1G>AClinVar 576 rs5030861

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
576	Pathogenic	reviewed by expert panel	3	Phenylketonuria; Inborn genetic diseases; PAH-related disorder; Pituitary hormone deficiency, combined, 2; Clear cell carcinoma of kidney; Malignant tumor of esophagus	germline	41	Aug 05, 2018	clinvar