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Variant : CV41101 (GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1) Homo sapiens

Symbol: CV41101
Name: GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1
Condition: See cases [RCV000050431]
Clinical Significance: pathogenic|likely pathogenic|conflicting data from submitters
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: ALDOA   ALDOA   ASPHD1   BOLA2B   C16orf54   C16orf92   CDIPT   CDIPTOSP   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   LOC101928595   LOC112352679   LOC112352680   LOC116276452   MAPK3   MAZ   MIR3680-2   MVP   NPIPB13   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SLX1A   SLX1A-SULT1A3   SPN   SULT1A3   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_29581462)_(30321260_?)del
NC_000016.9:g.(?_29592783)_(30332581_?)del
NC_000016.8:g.(?_29500284)_(30240082_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,581,462 - 30,321,260CLINVAR
GRCh371629,592,783 - 30,332,581CLINVAR
Build 361629,500,284 - 30,240,082CLINVAR
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: 8617647
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
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.