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Variant : CV247919 (GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1) Homo sapiens

Symbol: CV247919
Name: GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1
Condition: See cases [RCV000239775]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ABL2   ACBD6   ANGPTL1   ANKRD45   ASTN1   AXDND1   BRINP2   CACNA1E   CACYBP   CENPL   CEP350   COP1   DARS2   FAM163A   FAM20B   GAS5   GPR52   IER5   KIAA0040   KIAA1614   KLHL20   LHX4   MR1   MRPS14   NPHS2   PAPPA2   PRDX6   QSOX1   RABGAP1L   RALGPS2   RASAL2   RC3H1   SEC16B   SERPINC1   SLC9C2   SOAT1   STX6   TDRD5   TEX35   TNFSF18   TNFSF4   TNN   TNR   TOR1AIP1   TOR1AIP2   TOR3A   XPR1   ZBTB37  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371172,742,952 - 181,814,496CLINVAR
Cytogenetic Map11q24.3-25.3CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11541303
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.