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

Variant : CV675915 (GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1) Homo sapiens

Symbol: CV675915
Name: GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1
Condition: not provided [RCV000849014]
Clinical Significance: pathogenic
Last Evaluated: 06/19/2018
Review Status: no assertion criteria provided
Related Genes: AGPAT3   AIRE   CBS   CFAP410   CRYAA   CSTB   DNMT3L   GATD3A   HSF2BP   ICOSLG   KRTAP10-1   KRTAP10-10   KRTAP10-11   KRTAP10-12   KRTAP10-2   KRTAP10-3   KRTAP10-4   KRTAP10-5   KRTAP10-6   KRTAP10-7   KRTAP10-8   KRTAP10-9   KRTAP12-1   KRTAP12-2   KRTAP12-3   KRTAP12-4   LRRC3   NDUFV3   PDE9A   PDXK   PFKL   PKNOX1   PWP2   RRP1   RRP1B   RSPH1   SIK1   SLC37A1   SUMO3   TFF1   TFF2   TMPRSS3   TRAPPC10   TRPM2   TSPEAR   U2AF1   UBASH3A   UBE2G2   WDR4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372143,756,585 - 46,240,105CLINVAR
Cytogenetic Map2121q22.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14977657
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE



NHLBI Logo

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