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Variant : CV154465 (GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1) Homo sapiens

Symbol: CV154465
Name: GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1
Condition: See cases [RCV000134142]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AK4   ALG6   ANGPTL3   ATG4C   C1orf141   C1orf87   CACHD1   CYP2J2   DEPDC1   DEPDC1-AS1   DIRAS3   DLEU2L   DNAJC6   DOCK7   EFCAB7   FGGY   FOXD3   FOXD3-AS1   GADD45A   GNG12   GNG12-AS1   HOOK1   IL12RB2   IL23R   INSL5   ITGB3BP   JAK1   KANK4   L1TD1   LEPR   LEPROT   LINC00466   LINC01135   LINC01358   LINC01359   LINC01707   LINC01739   LINC01748   LINC02777   MIER1   MIR101-1   MIR12132   MIR1262   MIR3116-1   MIR3116-2   MIR3117   MIR3671   MIR4711   MIR4794   MIR6068   NFIA   NFIA-AS1   NFIA-AS2   PATJ   PDE4B   PDE4B-AS1   PGM1   RAVER2   ROR1   ROR1-AS1   RPE65   SERBP1   SGIP1   SLC35D1   TCTEX1D1   TM2D1   UBE2U   USP1   WDR78   WLS  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_58819605)_(69107108_?)del
NC_000001.10:g.(?_59285277)_(69572791_?)del
NC_000001.9:g.(?_59057865)_(69345379_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38158,819,605 - 69,107,108CLINVAR
GRCh37159,285,277 - 69,572,791CLINVAR
Build 36159,057,865 - 69,345,379CLINVAR
Cytogenetic Map11p32.1-31.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481722
Created: 2014-09-09
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.