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Variant : CV74175 (GRCh38/hg38 5p15.33-15.32(chr5:49778-4768868)x1) Homo sapiens

Symbol: CV74175
Name: GRCh38/hg38 5p15.33-15.32(chr5:49778-4768868)x1
Condition: Global developmental delay [RCV000053423]|See cases [RCV000053423]
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   IRX1   IRX2   IRX4   IRX4-AS1   LINC01017   LINC01019   LINC01377   LINC01511   LINC02063   LINC02116   LINC02162   LPCAT1   LRRC14B   LSINCT5   MIR4277   MIR4456   MIR4457   MIR4635   MIR6075   MRPL36   NDUFS6   NKD2   PDCD6   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.(?_49778)_(4768868_?)del
NC_000005.9:g.(?_49893)_(4768981_?)del
NC_000005.8:g.(?_102893)_(4821981_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38549,778 - 4,768,868CLINVAR
GRCh37549,893 - 4,768,981CLINVAR
Build 365102,893 - 4,821,981CLINVAR
Cytogenetic Map55p15.33-15.32CLINVAR
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: 8620360
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.