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Variant : CV74495 (GRCh38/hg38 1p36.21-36.13(chr1:15173497-17019576)x1) Homo sapiens

Symbol: CV74495
Name: GRCh38/hg38 1p36.21-36.13(chr1:15173497-17019576)x1
Condition: Global developmental delay [RCV000053771]|See cases [RCV000053771]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AGMAT   ARHGEF19   ATP13A2   CASP9   CELA2A   CELA2B   CLCNKA   CLCNKB   CPLANE2   CROCC   CTRC   DDI2   DNAJC16   EFHD2   EPHA2   FAM131C   FBLIM1   FBXO42   FHAD1   FHAD1-AS1   HSPB7   LINC01772   LINC01783   MFAP2   MIR3675   MST1L   NBPF1   NECAP2   PLEKHM2   RNU1-1   RNU1-2   RNU1-3   RNU1-4   RSC1A1   SCARNA21B   SDHB   SLC25A34   SLC25A34-AS1   SPATA21   SPEN   SRARP   SZRD1   TMEM51   TMEM82   TRE-TTC3-1   TRE-TTC4-1   TRG-CCC1-1   TRG-CCC1-2   TRG-CCC4-1   TRG-CCC5-1   TRN-GTT13-1   TRN-GTT4-1   TRN-GTT5-1   TRQ-CTG14-1   UQCRHL   ZBTB17  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_15173497)_(17019576_?)del
NC_000001.10:g.(?_15499993)_(17346071_?)del
NC_000001.9:g.(?_15372580)_(17218658_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38115,173,497 - 17,019,576CLINVAR
GRCh37115,499,993 - 17,346,071CLINVAR
Build 36115,372,580 - 17,218,658CLINVAR
Cytogenetic Map11p36.21-36.13CLINVAR
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: 8620686
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
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.