Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV73270 (GRCh38/hg38 15q13.2-13.3(chr15:30592358-32121422)x1) Homo sapiens

Symbol: CV73270
Name: GRCh38/hg38 15q13.2-13.3(chr15:30592358-32121422)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052453]|Autism [RCV000052454]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052453]|See cases [RCV000052453]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARHGAP11B   CHRNA7   FAN1   GOLGA8H   KLF13   LINC02352   MIR211   MTMR10   OTUD7A   TRPM1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_30592358)_(32121422_?)del
NC_000015.9:g.(?_30884561)_(32413623_?)del
NC_000015.8:g.(?_28671853)_(30200915_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381530,592,358 - 32,121,422CLINVAR
GRCh371530,884,561 - 32,413,623CLINVAR
Build 361528,671,853 - 30,200,915CLINVAR
Cytogenetic Map1515q13.2-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619438
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-15
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.