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Variant : CV74337 (GRCh38/hg38 2q13(chr2:109936618-110452159)x1) Homo sapiens

Symbol: CV74337
Name: GRCh38/hg38 2q13(chr2:109936618-110452159)x1
Condition: Nonsyndromic microcephaly [RCV000053606]|See cases [RCV000053606]
Clinical Significance: benign
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: LIMS4   LINC01106   LINC01123   MALL   MIR4267   MIR4436B1   MIR4436B2   MTLN   NPHP1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_109936618)_(110452159_?)del
NC_000002.11:g.(?_110694195)_(111209736_?)del
NC_000002.10:g.(?_110051484)_(110644273_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382109,936,618 - 110,452,159CLINVAR
GRCh372110,694,195 - 111,209,736CLINVAR
Build 362110,051,484 - 110,644,273CLINVAR
Cytogenetic Map22q13CLINVAR
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: 8620527
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.