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Variant : CV383557 (GRCh37/hg19 1p31.3(chr1:61785602-67430956)x3) Homo sapiens

Symbol: CV383557
Name: GRCh37/hg19 1p31.3(chr1:61785602-67430956)x3
Condition: See cases [RCV000446769]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AK4   ALG6   ANGPTL3   ATG4C   CACHD1   DNAJC6   DOCK7   EFCAB7   FOXD3   INSL5   ITGB3BP   JAK1   KANK4   L1TD1   LEPR   LEPROT   MIER1   MIR101-1   NFIA   PATJ   PDE4B   PGM1   RAVER2   ROR1   SGIP1   TCTEX1D1   TM2D1   UBE2U   USP1   WDR78  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37161,785,602 - 67,430,956CLINVAR
Cytogenetic Map11p31.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12851492
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.