Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV248387 (GRCh37/hg19 15q11.2(chr15:20848460-23191062)x1) Homo sapiens

Symbol: CV248387
Name: GRCh37/hg19 15q11.2(chr15:20848460-23191062)x1
Condition: See cases [RCV000240598]
Clinical Significance: uncertain significance
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: CYFIP1   GOLGA6L1   NIPA1   NIPA2   OR4M2   OR4N4   POTEB   POTEB2   TUBGCP5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371520,848,460 - 23,191,062CLINVAR
Cytogenetic Map1515q11.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11541968
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



NHLBI Logo

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