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Variant : CV71974 (GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3) Homo sapiens

Symbol: CV71974
Name: GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3
Condition: Global developmental delay [RCV000051072]|See cases [RCV000051072]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AHCYL2   ATP6V1F   ATP6V1FNB   CALU   CCDC136   CEP41   CHCHD3   COPG2   COPG2IT1   CPA1   CPA2   CPA4   CPA5   EXOC4   FLJ40288   FLNC   FLNC-AS1   IRF5   KCP   KLF14   KLHDC10   LINC-PINT   LINC00513   MEST   MESTIT1   MIR182   MIR183   MIR29A   MIR29B1   MIR335   MIR3654   MIR6133   MIR96   MKLN1   MKLN1-AS   NRF1   OPN1SW   PLXNA4   PODXL   SMKR1   SMO   SSMEM1   STRIP2   TMEM209   TNPO3   TRP-AGG2-3   TSGA13   TSPAN33   UBE2H   ZC3HC1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_128747478)_(134018250_?)dup
NC_000007.13:g.(?_128387532)_(133703003_?)dup
NC_000007.12:g.(?_128174768)_(133353543_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh387128,747,478 - 134,018,250CLINVAR
GRCh377128,387,532 - 133,703,003CLINVAR
Build 367128,174,768 - 133,353,543CLINVAR
Cytogenetic Map77q32.1-33CLINVAR
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: 8618118
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.