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Variant : CV157799 (GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3) Homo sapiens

Symbol: CV157799
Name: GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3
Condition: See cases [RCV000137134]
Clinical Significance: uncertain significance
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CA6   CLSTN1   CTNNBIP1   ENO1   ENO1-AS1   GPR157   H6PD   LINC02606   LNCTAM34A   LZIC   MIR34A   MIR34AHG   MIR5697   MIR6728   NMNAT1   PIK3CD   PIK3CD-AS1   PIK3CD-AS2   RBP7   RERE   SLC25A33   SLC2A5   SLC2A7   SPSB1   TMEM201   UBE4B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_8804244)_(10102950_?)dup
NC_000001.10:g.(?_8864303)_(10163008_?)dup
NC_000001.9:g.(?_8786890)_(10085595_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3818,804,244 - 10,102,950CLINVAR
GRCh3718,864,303 - 10,163,008CLINVAR
Build 3618,786,890 - 10,085,595CLINVAR
Cytogenetic Map11p36.23-36.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484693
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.