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Variant : CV157789 (GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1) Homo sapiens

Symbol: CV157789
Name: GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1
Condition: See cases [RCV000137128]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANKRD45   ASTN1   BLZF1   BRINP2   C1orf105   C1orf112   CACYBP   CCDC181   CENPL   COP1   CRYZL2P-SEC16B   DARS2   DNM3   DNM3-IT1   DNM3OS   EEF1AKNMT   F5   FASLG   FMO1   FMO2   FMO3   FMO4   GAS5   GAS5-AS1   GORAB   GORAB-AS1   GPR52   KIAA0040   KIFAP3   KLHL20   LINC01142   LINC01645   LINC01657   LINC01681   LINC01741   LINC02776   METTL11B   METTL18   MIR1295A   MIR1295B   MIR1843   MIR199A2   MIR214   MIR3119-1   MIR3119-2   MIR3120   MIR488   MROH9   MRPS14   MYOC   MYOCOS   NME7   PAPPA2   PIGC   PRDX6   PRRC2C   PRRX1   RABGAP1L   RABGAP1L-DT   RC3H1   SCARNA3   SCYL3   SEC16B   SELE   SELL   SELP   SERPINC1   SLC19A2   SLC9C2   SNORA103   SNORD44   SNORD47   SNORD74   SNORD75   SNORD76   SNORD77   SNORD78   SNORD79   SNORD80   SNORD81   SUCO   TEX50   TNFSF18   TNFSF4   TNN   TNR   VAMP4   ZBTB37  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_169218236)_(178075834_?)del
NC_000001.10:g.(?_169187474)_(178044969_?)del
NC_000001.9:g.(?_167454098)_(176311592_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381169,218,236 - 178,075,834CLINVAR
GRCh371169,187,474 - 178,044,969CLINVAR
Build 361167,454,098 - 176,311,592CLINVAR
Cytogenetic Map11q24.2-25.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484687
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.