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Variant : CV153888 (GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1) Homo sapiens

Symbol: CV153888
Name: GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1
Condition: See cases [RCV000133619]
Clinical Significance: pathogenic
Last Evaluated: 07/16/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AP000688.1   AP000688.2   CBR1   CBR3   CBR3-AS1   CHAF1B   CLDN14   DOP1B   DSCR10   DSCR4   DSCR8   DSCR9   DYRK1A   ERG   HLCS   KCNJ15   KCNJ6   KCNJ6-AS1   LINC01423   LINC01436   LOC101928269   LOC108281168   LOC110121448   LOC111099028   LOC111556145   LOC112694744   LOC112694745   LOC112694746   LOC112694747   LOC112694748   LOC114827853   MORC3   PIGP   RIPPLY3   SETD4   SETD4-AS1   SIM2   TTC3   TTC3-AS1   VPS26C  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_35772177)_(38558509_?)del
Human AssemblyChrPosition (strand)Source
GRCh382135,772,177 - 38,558,509CLINVAR
GRCh372137,144,475 - 39,930,433CLINVAR
Build 362136,066,345 - 38,852,303CLINVAR
Cytogenetic Map2121q22.12-22.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9481204
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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