Annotation Detail

Information

Associated Genes: CFTR CFTR-AS1
Associated Variants: CFTR p.Phe508del (p.F508del) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 )
CFTR p.Phe508del (p.F508del) ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699596.1, ENST00000699597.1, ENST00000699602.1, ENST00000699605.1 )
Associated Disease: cystic fibrosis
Source Database: ClinVar
Description: NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND Cystic fibrosis
ClinVar Allele ID: 22144
ClinVar RefSeq Alternation Syntax: NM_000492.4:c.1521_1523del
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2004-03-03
Clinical Significance Review Status: practice guideline
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000007523
ClinVar Disease: Cystic fibrosis
Observed Origin Sample: germline
Observed Origin Sample: inherited
Observed Origin Sample: maternal
Observed Origin Sample: unknown
Observed Origin Sample: paternal
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