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Variant : CV71767 (GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1) Homo sapiens

Symbol: CV71767
Name: GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1
Condition: Global developmental delay [RCV000050822]|See cases [RCV000050822]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARL8B   BHLHE40   BHLHE40-AS1   CNTN4   CNTN4-AS1   CNTN4-AS2   CRBN   EDEM1   EGOT   GRM7-AS3   IL5RA   ITPR1   ITPR1-DT   LRRN1   MIR4790   SETMAR   SUMF1   TRNT1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_1984526)_(6852981_?)del
NC_000003.11:g.(?_2026210)_(6894668_?)del
NC_000003.10:g.(?_2001210)_(6869668_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3831,984,526 - 6,852,981CLINVAR
GRCh3732,026,210 - 6,894,668CLINVAR
Build 3632,001,210 - 6,869,668CLINVAR
Cytogenetic Map33p26.3-26.1CLINVAR
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: 8617895
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.