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

Variant : CV71761 (GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1) Homo sapiens

Symbol: CV71761
Name: GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1
Condition: See cases [RCV000050816]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: APOLD1   BCL2L14   BORCS5   CDKN1B   CREBL2   DDX47   DUSP16   EMP1   ETV6   FAM234B   GPR19   GPRC5A   GPRC5D   GPRC5D-AS1   GRIN2B   GSG1   HEBP1   LINC01559   LOH12CR2   LRP6   MANSC1   MIR1244-4   MIR613   MIR614  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_11771233)_(13547775_?)del
NC_000012.11:g.(?_11924167)_(13700709_?)del
NC_000012.10:g.(?_11815434)_(13591976_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381211,771,233 - 13,547,775CLINVAR
GRCh371211,924,167 - 13,700,709CLINVAR
Build 361211,815,434 - 13,591,976CLINVAR
Cytogenetic Map1212p13.2-13.1CLINVAR
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
 
CRRD Object Information
CRRD ID: 8617889
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



NHLBI Logo

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