22144[alleleid] - ClinVar

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Result Filters

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6348371.	NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C] GRCh37: Chr7:117199645-117199647 Chr7:117250664 GRCh38: Chr7:117559591-117559593 Chr7:117610610	CFTR, CFTR-AS1, CFTR, LOC111674472		Cystic fibrosis	Pathogenic (Mar 11, 2019)	reviewed by expert panel
Select item 71052.	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) GRCh37: Chr7:117199645-117199647 GRCh38: Chr7:117559591-117559593	CFTR, CFTR-AS1		Cystic fibrosis	Pathogenic (Mar 3, 2004)	practice guideline