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Variant : CV71788 (GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1) Homo sapiens

Symbol: CV71788
Name: GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1
Condition: See cases [RCV000050848]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, multiple submitters, no conflicts|no assertion criteria provided
Related Genes: AC000036.1   ACR   ADM2   AL117329.1   ALG12   ARSA   BRD1   C22orf34   CHKB   CHKB-CPT1B   CHKB-DT   CPT1B   CRELD2   DENND6B   HDAC10   IL17REL   KLHDC7B   KLHDC7B-DT   LINC01310   LMF2   MAPK11   MAPK12   MAPK8IP2   MIOX   MIR12114   MIR3201   MIR3667   MIR4535   MIR6821   MLC1   MOV10L1   NCAPH2   ODF3B   PANX2   PIM3   PLXNB2   PPP6R2   SBF1   SCO2   SELENOO   SHANK3   SYCE3   TAFA5   TRABD   TTLL8   TUBGCP6   TYMP   Z84468.1   ZBED4  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_47705262)_(50739836_?)del
Human AssemblyChrPosition (strand)Source
GRCh382247,705,262 - 50,739,836CLINVAR
GRCh372248,101,011 - 51,178,264CLINVAR
Build 362246,479,675 - 49,525,130CLINVAR
Cytogenetic Map2222q13.31-13.33CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8617917
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.