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Variant : CV159166 (GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1) Homo sapiens

Symbol: CV159166
Name: GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1
Condition: See cases [RCV000138434]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ATG3   ATP6V1A   BOC   BTLA   CCDC191   CCDC80   CD200R1   CD200R1L   CD200R1L-AS1   CFAP44   CFAP44-AS1   DRD3   GAP43   GRAMD1C   GTPBP8   LINC02042   LINC02044   LOC110120631   LOC110121175   LOC110121187   LOC111255649   LOC112848343   MIR4446   MIR4796   MIR568   MIR8076   MIR9900   NAA50   NEPRO   QTRT2   SIDT1   SLC35A5   SPICE1   TIGIT   USF3   ZBTB20   ZBTB20-AS1   ZBTB20-AS3   ZBTB20-AS4   ZBTB20-AS5   ZDHHC23   ZNF80  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_112465094)_(115774111_?)del
NC_000003.11:g.(?_112183941)_(115492958_?)del
NC_000003.10:g.(?_113666631)_(116975648_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383112,465,094 - 115,774,111CLINVAR
GRCh373112,183,941 - 115,492,958CLINVAR
Build 363113,666,631 - 116,975,648CLINVAR
Cytogenetic Map33q13.2-13.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485981
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE



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