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Variant : CV159827 (GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1) Homo sapiens

Symbol: CV159827
Name: GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1
Condition: See cases [RCV000138985]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC025419.1   AVPR1A   C12orf56   C12orf66   DPY19L2   GNS   GRIP1   HELB   HMGA2   HMGA2-AS1   IRAK3   LEMD3   LINC01465   LINC02231   LINC02389   LINC02425   LINC02454   LLPH   LLPH-DT   MIR10527   MIR548C   MIR548Z   MIR6074   MIR6125   MIR6502   MIRLET7I   MON2   MSRB3   PPM1H   RASSF3   RXYLT1   RXYLT1-AS1   SRGAP1   TAFA2   TBC1D30   TBK1   TMBIM4   USP15   WIF1   XPOT  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_60907151)_(66568077_?)del
NC_000012.11:g.(?_61300932)_(66961857_?)del
NC_000012.10:g.(?_59587199)_(65248124_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381260,907,151 - 66,568,077CLINVAR
GRCh371261,300,932 - 66,961,857CLINVAR
Build 361259,587,199 - 65,248,124CLINVAR
Cytogenetic Map1212q14.1-14.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486517
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-21
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.