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Variant : CV75059 (GRCh38/hg38 16p11.2(chr16:29441012-30323310)x3) Homo sapiens

Symbol: CV75059
Name: GRCh38/hg38 16p11.2(chr16:29441012-30323310)x3
Condition: See cases [RCV000054367]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALDOA   ALDOA   ASPHD1   BOLA2   BOLA2-SMG1P6   BOLA2B   C16orf54   C16orf92   CDIPT   CDIPTOSP   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   LOC101928595   LOC112352679   LOC112352680   LOC116276452   MAPK3   MAZ   MIR3680-2   MVP   NPIPB12   NPIPB13   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SLX1A   SLX1A-SULT1A3   SLX1B   SLX1B-SULT1A4   SPN   SULT1A3   SULT1A4   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_29441012)_(30323310_?)dup
NC_000016.9:g.(?_29452333)_(30334631_?)dup
NC_000016.8:g.(?_29359834)_(30242132_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,441,012 - 30,323,310CLINVAR
GRCh371629,452,333 - 30,334,631CLINVAR
Build 361629,359,834 - 30,242,132CLINVAR
Cytogenetic Map1616p11.2CLINVAR
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: 8621254
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-24
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.