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Variant : CV819586 (NC_000005.10:g.(?_218346)_(1295046_?)del) Homo sapiens

Symbol: CV819586
Name: NC_000005.10:g.(?_218346)_(1295046_?)del
Condition: Idiopathic fibrosing alveolitis, chronic form [RCV001031825]
Clinical Significance: pathogenic
Last Evaluated: 04/20/2019
Review Status: criteria provided, single submitter
Related Genes: AHRR   BRD9   CEP72   EXOC3   EXOC3-AS1   NKD2   PDCD6   SDHA   SLC12A7   SLC6A18   SLC6A19   SLC9A3   TERT   TPPP   TRIP13   ZDHHC11   ZDHHC11B  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_218346)_(1295046_?)del
Human AssemblyChrPosition (strand)Source
GRCh375218,461 - 1,295,161CLINVAR
Cytogenetic Map55p15.33CLINVAR
Trait Synonyms: Dyskeratosis congenita, autosomal dominant, 2; Familial idiopathic pulmonary fibrosis; Fibrocystic pulmonary dysplasia; Fibrosing alveolitis, cryptogenic; Hamman-Rich syndrome; Idiopathic Pulmonary Fibrosis

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 26890800
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.