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Variant : CV164474 (GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1) Homo sapiens

Symbol: CV164474
Name: GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1
Condition: See cases [RCV000142787]
Clinical Significance: likely pathogenic
Last Evaluated: 05/20/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABTB1   AC010210.1   ACAD11   ACAD9   ACKR4   ACP3   ALG1L2   ASTE1   ATP2C1   BFSP2   BFSP2-AS1   CFAP92   CNBP   COL6A5   COL6A6   COPG1   CPNE4   DNAJB8   DNAJB8-AS1   DNAJC13   EEFSEC   EFCAB12   EFCC1   GATA2   GATA2-AS1   GP9   H1-10   H1-10-AS1   H1-8   HMCES   IFT122   ISY1   ISY1-RAB43   KBTBD12   LINC01565   LINC02014   LINC02021   MBD4   MCM2   MGLL   MIR12124   MIR5704   MIR6826   MRPL3   NEK11   NPHP3   NPHP3-ACAD11   NPHP3-AS1   NUDT16   PIK3R4   PLXND1   PODXL2   RAB43   RAB7A   RHO   RPN1   RUVBL1   RUVBL1-AS1   SEC61A1   SNORA58   SNORA7B   TMCC1   TMCC1-AS1   TMEM108   TMEM108-AS1   TRC-GCA6-1   TRC-GCA9-1   TRH   UBA5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_127607945)_(133566661_?)del
NC_000003.11:g.(?_127326788)_(133285505_?)del
NC_000003.10:g.(?_128809478)_(134768195_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383127,607,945 - 133,566,661CLINVAR
GRCh373127,326,788 - 133,285,505CLINVAR
Build 363128,809,478 - 134,768,195CLINVAR
Cytogenetic Map33q21.3-22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490385
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-07
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.