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Variant : CV72688 (GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3) Homo sapiens

Symbol: CV72688
Name: GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3
Condition: See cases [RCV000051836]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANXA2R   C5orf34   C5orf34-AS1   C5orf51   C6   C7   C9   CARD6   CCDC152   CCL28   CPLANE1   DAB2   EGFLAM   EGFLAM-AS2   EGFLAM-AS4   EMB   FBXO4   FGF10   FGF10-AS1   FYB1   GDNF   GDNF-AS1   GHR   HCN1   HMGCS1   LIFR   LIFR-AS1   LINC00603   LINC01265   LINC02104   LINC02106   LINC02107   LINC02110   LINC02119   LINC02224   LOC153684   MIR3650   MROH2B   MRPS30   MRPS30-DT   NIM1K   NIPBL   NIPBL-DT   NNT   NNT-AS1   NUP155   OSMR   OSMR-AS1   OXCT1   OXCT1-AS1   PAIP1   PARP8   PLCXD3   PRKAA1   PTGER4   RICTOR   RPL37   SELENOP   SLC1A3   SNORD72   TMEM267   TTC33   WDR70   ZNF131  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_36374107)_(51103841_?)dup
NC_000005.9:g.(?_36374209)_(50399675_?)dup
NC_000005.8:g.(?_36409966)_(50435432_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38536,374,107 - 51,103,841CLINVAR
GRCh37536,374,209 - 50,399,675CLINVAR
Build 36536,409,966 - 50,435,432CLINVAR
Cytogenetic Map55p13.2-q11.1CLINVAR
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
 
RGD Object Information
RGD ID: 8618849
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-05-12
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.