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Variant : CV165395 (GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1) Homo sapiens

Symbol: CV165395
Name: GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1
Condition: See cases [RCV000143708]
Clinical Significance: pathogenic
Last Evaluated: 03/10/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC000036.1   ACR   ADM2   ALG12   ARSA   BRD1   C22orf34   CHKB   CHKB-CPT1B   CHKB-DT   CPT1B   CRELD2   DENND6B   HDAC10   IL17REL   KLHDC7B   KLHDC7B-DT   LMF2   MAPK11   MAPK12   MAPK8IP2   MIOX   MIR12114   MIR3667   MIR6821   MLC1   MOV10L1   NCAPH2   ODF3B   PANX2   PIM3   PLXNB2   PPP6R2   SBF1   SCO2   SELENOO   SHANK3   SYCE3   TRABD   TTLL8   TUBGCP6   TYMP   ZBED4  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_49529760)_(50759410_?)del
Human AssemblyChrPosition (strand)Source
GRCh382249,529,760 - 50,759,410CLINVAR
GRCh372249,923,409 - 51,197,838CLINVAR
Build 362248,309,413 - 49,544,704CLINVAR
Cytogenetic Map2222q13.33CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9491306
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-07
Status: ACTIVE


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