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

Variant : CV164887 (GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3) Homo sapiens

Symbol: CV164887
Name: GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3
Condition: See cases [RCV000143200]
Clinical Significance: uncertain significance
Last Evaluated: 11/26/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CA6   ENO1   ENO1-AS1   GPR157   H6PD   LINC02606   LNCTAM34A   MIR34A   MIR34AHG   MIR6728   PIK3CD   SLC25A33   SLC2A5   SLC2A7   SPSB1   TMEM201  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_8819278)_(9634691_?)dup
NC_000001.10:g.(?_8879337)_(9694749_?)dup
NC_000001.9:g.(?_8801924)_(9617336_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3818,819,278 - 9,634,691CLINVAR
GRCh3718,879,337 - 9,694,749CLINVAR
Build 3618,801,924 - 9,617,336CLINVAR
Cytogenetic Map11p36.23-36.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490798
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE



NHLBI Logo

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