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Variant : CV74173 (GRCh38/hg38 5p15.33(chr5:37694-2913205)x1) Homo sapiens

Symbol: CV74173
Name: GRCh38/hg38 5p15.33(chr5:37694-2913205)x1
Condition: See cases [RCV000053421]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AHRR   BRD9   C5orf38   CCDC127   CEP72   CLPTM1L   EXOC3   EXOC3-AS1   IRX2   IRX4   IRX4-AS1   LINC01511   LINC02116   LPCAT1   LRRC14B   LSINCT5   MIR4277   MIR4456   MIR4457   MIR4635   MIR6075   MRPL36   NDUFS6   NKD2   PDCD6   PDCD6-AHRR   PLEKHG4B   SDHA   SLC12A7   SLC6A18   SLC6A19   SLC6A3   SLC9A3   SLC9A3-AS1   TERT   TPPP   TRIP13   ZDHHC11   ZDHHC11B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_37694)_(2913205_?)del
NC_000005.9:g.(?_37692)_(2913319_?)del
NC_000005.8:g.(?_90692)_(2966319_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38537,694 - 2,913,205CLINVAR
GRCh37537,692 - 2,913,319CLINVAR
Build 36590,692 - 2,966,319CLINVAR
Cytogenetic Map55p15.33CLINVAR
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: 8620358
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-05-26
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.