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Variant : CV73929 (GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1) Homo sapiens

Symbol: CV73929
Name: GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1
Condition: See cases [RCV000053167]
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   AC104964.1   AC105001.1   AF131215.3   AF131216.3   BLK   C8orf49   C8orf74   CLDN23   CTSB   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB4A   DEFB4B   ERI1   FAM167A   FAM167A-AS1   FAM66E   FAM85B   FDFT1   GATA4   LINC00208   MFHAS1   MIR124-1   MIR124-1HG   MIR1322   MIR4286   MIR4660   MIR548I3   MIR597   MIR598   MSRA   MTMR9   NEIL2   PINX1   PPP1R3B   PRAG1   PRR23D1   PRR23D2   PRSS51   PRSS55   RP1L1   SLC35G5   SNORA99   SNORD3I   SOX7   SPAG11A   SPAG11B   TNKS   USP17L3   USP17L8   XKR6   ZNF705B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_7411297)_(11961807_?)del
NC_000008.10:g.(?_7268819)_(11819316_?)del
NC_000008.9:g.(?_7256229)_(11856725_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3887,411,297 - 11,961,807CLINVAR
GRCh3787,268,819 - 11,819,316CLINVAR
Build 3687,256,229 - 11,856,725CLINVAR
Cytogenetic Map88p23.1CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620107
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-30
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.