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Variant : CV72273 (GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1) Homo sapiens

Symbol: CV72273
Name: GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1
Condition: Nonsyndromic microcephaly [RCV000051416]|See cases [RCV000051416]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCC4   CLDN10   CLDN10-AS1   DCT   DNAJC3   DNAJC3-DT   DOCK9   DOCK9-AS1   DZIP1   FARP1   GPC5   GPC5-AS1   GPC5-AS2   GPC6   GPC6-AS1   GPC6-AS2   GPR180   HS6ST3   IPO5   LINC00353   LINC00359   LINC00363   LINC00379   LINC00380   LINC00410   LINC00433   LINC00440   LINC00456   LINC00557   LINC00559   LINC00560   LINC01040   LINC01047   LINC01049   LINC02336   MBNL2   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR3170   MIR4501   MIR548AS   MIR622   MIR92A1   OXGR1   RAP2A   RNF113B   SLC15A1   SNORD13G   SOX21   SOX21-AS1   STK24   STK24-AS1   TGDS   TRF-GAA1-5   UGGT2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_88323009)_(98888644_?)del
NC_000013.10:g.(?_88975264)_(99540898_?)del
NC_000013.9:g.(?_87773265)_(98338899_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381388,323,009 - 98,888,644CLINVAR
GRCh371388,975,264 - 99,540,898CLINVAR
Build 361387,773,265 - 98,338,899CLINVAR
Cytogenetic Map1313q31.2-32.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618433
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.