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Variant : CV74874 (GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1) Homo sapiens

Symbol: CV74874
Name: GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1
Condition: See cases [RCV000054153]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC004980.1   APTR   CCDC146   CCL24   CCL26   DTX2   FGL2   GSAP   HIP1   HSPB1   MAGI2   MDH2   MIR4651   PHTF2   POMZP3   POR   PTPN12   RHBDD2   RSBN1L   SNORA14A   SPDYE16   SPDYE17   SPDYE18   SPDYE5   SRRM3   SSC4D   STYXL1   TMEM120A   TMEM60   UPK3B   YWHAG   ZP3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_75496701)_(78375575_?)del
NC_000007.13:g.(?_75126024)_(78004892_?)del
NC_000007.12:g.(?_74963960)_(77842828_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38775,496,701 - 78,375,575CLINVAR
GRCh37775,126,024 - 78,004,892CLINVAR
Build 36774,963,960 - 77,842,828CLINVAR
Cytogenetic Map77q11.23-21.11CLINVAR
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
 
RGD Object Information
RGD ID: 8621066
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
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.