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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: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050848]|Global developmental delay [RCV000050849]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050848]|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: ACR   ADM2   ALG12   ARSA   BRD1   C22orf34   CHKB   CHKB-CPT1B   CHKB-DT   CPT1B   CRELD2   DENND6B   HDAC10   IL17REL   KLHDC7B   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   ZBED4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_47705262)_(50739836_?)del
NC_000022.10:g.(?_48101011)_(51178264_?)del
NC_000022.9:g.(?_46479675)_(49525130_?)del
Position
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
 
CRRD Object Information
CRRD ID: 8617917
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE



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