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Variant : CV71955 (GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1) Homo sapiens

Symbol: CV71955
Name: GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1
Condition: See cases [RCV000051047]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCG1   AP001042.3   B3GALT5   B3GALT5-AS1   BACE2   BRWD1   BRWD1-AS1   BRWD1-AS2   C2CD2   DSCAM   DSCAM-AS1   DSCAM-IT1   DSCR10   DSCR4   DSCR8   DSCR9   DYRK1A   ERG   ETS2   FAM3B   GET1   GET1-SH3BGR   HMGN1   IGSF5   KCNJ15   KCNJ6   KCNJ6-AS1   LCA5L   LINC00111   LINC00112   LINC00114   LINC00323   LINC00479   LINC01423   LINC01700   LOC400867   MIR3197   MIR4760   MIR6508   MIR6814   MX1   MX2   PCP4   PCSEAT   PLAC4   PRDM15   PSMG1   RIPK4   SH3BGR   SNORA91   TFF1   TFF2   TFF3   TMPRSS2   TMPRSS3   TTC3   TTC3-AS1   UBASH3A   UMODL1   UMODL1-AS1   VPS26C   ZBTB21   ZNF295-AS1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_37135738)_(42434515_?)del
Human AssemblyChrPosition (strand)Source
GRCh382137,135,738 - 42,434,515CLINVAR
GRCh372138,508,038 - 43,854,625CLINVAR
Build 362137,429,908 - 42,727,694CLINVAR
Cytogenetic Map2121q22.13-22.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8618097
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


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