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Variant : CV74234 (GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1) Homo sapiens

Symbol: CV74234
Name: GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1
Condition: See cases [RCV000053486]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC022784.1   AC105001.1   AF131215.3   AF131216.3   BLK   C8orf49   C8orf74   CLDN23   CTSB   DEFB135   DEFB136   ERI1   FAM167A   FAM167A-AS1   FDFT1   GATA4   LINC00208   LINCR-0001   MFHAS1   MIR124-1   MIR124-1HG   MIR1322   MIR4286   MIR4660   MIR597   MIR598   MSRA   MTMR9   NEIL2   PINX1   PPP1R3B   PRAG1   PRSS51   PRSS55   RP1L1   SLC35G5   SNORA99   SNORD3I   SOX7   TNKS   XKR6  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_8336212)_(11984392_?)del
NC_000008.10:g.(?_8193728)_(11841901_?)del
NC_000008.9:g.(?_8231138)_(11879310_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3888,336,212 - 11,984,392CLINVAR
GRCh3788,193,728 - 11,841,901CLINVAR
Build 3688,231,138 - 11,879,310CLINVAR
Cytogenetic Map88p23.1CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.|1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620420
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-08
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.