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Variant : CV518796 (NC_000003.11:g.(?_186256465)_(186980528_?)del) Homo sapiens

Symbol: CV518796
Name: NC_000003.11:g.(?_186256465)_(186980528_?)del
Condition: Michels syndrome [RCV000638455]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 12/07/2018
Review Status: criteria provided, single submitter
Related Genes: ADIPOQ   AHSG   CRYGS   DNAJB11   EIF4A2   FETUB   HRG   KNG1   MASP1   RFC4   RPL39L   RTP1   SNORA63   SNORA81   ST6GAL1   TBCCD1  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000003.11:g.(?_186256465)_(186980528_?)del
Human AssemblyChrPosition (strand)Source
GRCh373186,256,465 - 186,980,528CLINVAR
Cytogenetic Map33q27.3CLINVAR
Trait Synonyms: 3MC SYNDROME 1

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13606572
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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