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Variant : CV75053 (GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1) Homo sapiens

Symbol: CV75053
Name: GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1
Condition: See cases [RCV000054359]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALKBH5   ATPAF2   COPS3   DRC3   DRG2   EVPLL   FLCN   FLII   GID4   LINC02076   LLGL1   MED9   MIEF2   MIR33B   MIR6777   MIR6778   MPRIP   MYO15A   NT5M   PEMT   PLD6   RAI1   RAI1-AS1   RASD1   SHMT1   SMCR2   SMCR5   SMCR8   SREBF1   TOM1L2   TOP3A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_17150076)_(18415759_?)del
NC_000017.10:g.(?_17053390)_(18319073_?)del
NC_000017.9:g.(?_16994115)_(18259798_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381717,150,076 - 18,415,759CLINVAR
GRCh371717,053,390 - 18,319,073CLINVAR
Build 361716,994,115 - 18,259,798CLINVAR
Cytogenetic Map1717p11.2CLINVAR
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
 
RGD Object Information
RGD ID: 8621247
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
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.