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Variant : CV72140 (GRCh38/hg38 2q13(chr2:110025659-110371270)x0) Homo sapiens

Symbol: CV72140
Name: GRCh38/hg38 2q13(chr2:110025659-110371270)x0
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051262]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051262]|See cases [RCV000051262]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: 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.(?_110025659)_(110371270_?)del
NC_000002.11:g.(?_110783236)_(111128847_?)del
NC_000002.10:g.(?_110140525)_(110563384_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382110,025,659 - 110,371,270CLINVAR
GRCh372110,783,236 - 111,128,847CLINVAR
Build 362110,140,525 - 110,563,384CLINVAR
Cytogenetic Map22q13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618296
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-17
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.