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Variant : CV74967 (GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1) Homo sapiens

Symbol: CV74967
Name: GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1
Condition: Global developmental delay [RCV000054253]|See cases [RCV000054253]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALDOA   ASPHD1   ATP2A1   ATP2A1-AS1   ATXN2L   BOLA2   BOLA2-SMG1P6   C16orf54   C16orf92   CD19   CDIPT   CDIPTOSP   CORO1A   DOC2A   EIF3C   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   LAT   MAPK3   MAZ   MIR3680-2   MIR4517   MIR4721   MIR6862-2   MVP   NFATC2IP   NPIPB11   NPIPB12   NPIPB8   NPIPB9   NUPR1   PAGR1   PPP4C   PRRT2   QPRT   RABEP2   SEZ6L2   SGF29   SH2B1   SLX1B   SLX1B-SULT1A4   SPN   SPNS1   SULT1A1   SULT1A2   SULT1A4   TAOK2   TBX6   TLCD3B   TMEM219   TUFM   YPEL3   ZG16  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_28531783)_(30183432_?)del
NC_000016.9:g.(?_28543104)_(30194753_?)del
NC_000016.8:g.(?_28450605)_(30102254_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381628,531,783 - 30,183,432CLINVAR
GRCh371628,543,104 - 30,194,753CLINVAR
Build 361628,450,605 - 30,102,254CLINVAR
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: 8621161
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.