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Variant : CV74339 (GRCh38/hg38 2q13(chr2:110084138-110611314)x1) Homo sapiens

Symbol: CV74339
Name: GRCh38/hg38 2q13(chr2:110084138-110611314)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053608]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053608]|See cases [RCV000053608]
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   MALL   MIR4436B1   MIR4436B2   MTLN   NPHP1   RGPD6  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_110084138)_(110611314_?)del
NC_000002.11:g.(?_110841715)_(111368891_?)del
NC_000002.10:g.(?_110199004)_(111085360_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382110,084,138 - 110,611,314CLINVAR
GRCh372110,841,715 - 111,368,891CLINVAR
Build 362110,199,004 - 111,085,360CLINVAR
Cytogenetic Map22q13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620529
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.