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Variant : CV75028 (GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1) Homo sapiens

Symbol: CV75028
Name: GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1
Condition: See cases [RCV000054333]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC104024.1   ALKBH5   ATPAF2   CCDC144A   CENPV   COPS3   DRC3   DRG2   FAM106C   FLCN   FLII   GID4   LINC02090   LLGL1   LRRC75A   MED9   MIEF2   MIR1288   MIR33B   MIR6777   MIR6778   MPRIP   MYO15A   NCOR1   NT5M   PEMT   PIGL   PLD6   RAI1   RAI1-AS1   RASD1   SHMT1   SMCR2   SMCR5   SMCR8   SNHG29   SNORD163   SNORD49A   SNORD49B   SNORD65   SREBF1   TNFRSF13B   TOM1L2   TOP3A   TRPV2   UBB   ZNF287   ZNF624  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_16117885)_(18362819_?)del
NC_000017.10:g.(?_16021199)_(18266133_?)del
NC_000017.9:g.(?_15961924)_(18206858_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381716,117,885 - 18,362,819CLINVAR
GRCh371716,021,199 - 18,266,133CLINVAR
Build 361715,961,924 - 18,206,858CLINVAR
Cytogenetic Map1717p11.2CLINVAR
Age Of Onset: neonatal/infancy
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: 8621222
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.