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Variant : CV72889 (GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1) Homo sapiens

Symbol: CV72889
Name: GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1
Condition: Global developmental delay [RCV000052045]|See cases [RCV000052045]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACAP3   ACOT7   ACTRT2   AGRN   AJAP1   ANKRD65   ARHGEF16   ATAD3A   ATAD3B   ATAD3C   AURKAIP1   B3GALT6   C1orf159   C1orf174   C1QTNF12   CALML6   CAMTA1   CAMTA1-AS1   CAMTA1-AS2   CAMTA1-DT   CAMTA1-IT1   CCDC27   CCNL2   CDK11A   CDK11B   CEP104   CFAP74   CHD5   CPTP   DFFB   DNAJC11   DVL1   ERRFI1   ESPN   FAAP20   FAM41C   FNDC10   GABRD   GNB1   GPR153   HES2   HES3   HES4   HES5   ICMT   INTS11   ISG15   KCNAB2   KLHL17   KLHL21   LINC00337   LINC01128   LINC01134   LINC01342   LINC01345   LINC01346   LINC01646   LINC01672   LINC01714   LINC01770   LINC01777   LINC01786   LINC02593   LINC02782   LRRC47   MEGF6   MIB2   MIR200A   MIR200B   MIR4251   MIR4252   MIR429   MIR4689   MIR551A   MIR6726   MIR6727   MIR6808   MMEL1   MMEL1-AS1   MMP23B   MORN1   MRPL20   MRPL20-AS1   MXRA8   NADK   NOC2L   NOL9   NPHP4   PANK4   PARK7   PER3   PERM1   PEX10   PHF13   PLCH2   PLEKHG5   PLEKHN1   PRDM16   PRDM16-DT   PRKCZ   PRKCZ-AS1   PRXL2B   PUSL1   RER1   RERE   RERE-AS1   RNF207   RNF223   RPL22   SAMD11   SCNN1D   SDF4   SKI   SLC35E2A   SLC35E2B   SLC45A1   SMIM1   SNORD128   SNORD167   SSU72   TAS1R1   TAS1R3   THAP3   TMEM240   TMEM52   TMEM88B   TNFRSF14   TNFRSF14-AS1   TNFRSF18   TNFRSF25   TNFRSF4   TNFRSF9   TP73   TP73-AS1   TPRG1L   TTC34   TTLL10   TTLL10-AS1   UBE2J2   UTS2   VAMP3   VWA1   WRAP73   ZBTB48  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_859215)_(8747647_?)del
NC_000001.10:g.(?_794595)_(8807706_?)del
NC_000001.9:g.(?_784458)_(8730293_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381859,215 - 8,747,647CLINVAR
GRCh371794,595 - 8,807,706CLINVAR
Build 361784,458 - 8,730,293CLINVAR
Cytogenetic Map11p36.33-36.23CLINVAR
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: 8619051
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.