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Variant : CV74640 (GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1) Homo sapiens

Symbol: CV74640
Name: GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053917]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053917]|See cases [RCV000053917]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADCY10   ANKRD45   ATP1B1   BLZF1   C1orf105   C1orf112   CACYBP   CCDC181   CD247   CENPL   CREG1   DARS2   DCAF6   DNM3   DNM3-IT1   DNM3OS   DPT   DUSP27   EEF1AKNMT   F5   FASLG   FMO1   FMO2   FMO3   FMO4   GAS5   GAS5-AS1   GORAB   GORAB-AS1   GPA33   GPR161   GPR52   ILDR2   KIAA0040   KIFAP3   KLHL20   LINC00626   LINC00970   LINC01142   LINC01363   LINC01681   LINC02776   MAEL   METTL11B   METTL18   MIR1255B2   MIR1295A   MIR1295B   MIR199A2   MIR214   MIR3119-1   MIR3119-2   MIR3120   MIR557   MPC2   MPZL1   MROH9   MRPS14   MYOC   MYOCOS   NME7   PIGC   POGK   POU2F1   PRDX6   PRRC2C   PRRX1   RABGAP1L   RABGAP1L-DT   RC3H1   RCSD1   SCYL3   SELE   SELL   SELP   SERPINC1   SFT2D2   SLC19A2   SLC9C2   SNORA103   SNORD44   SNORD47   SNORD74   SNORD75   SNORD76   SNORD77   SNORD78   SNORD79   SNORD80   SNORD81   SUCO   TADA1   TBX19   TEX50   TIPRL   TNFSF18   TNFSF4   TNN   TNR   TRP-AGG2-1   TRP-CGG1-1   VAMP4   XCL1   XCL2   ZBTB37  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_166762832)_(175327423_?)del
NC_000001.10:g.(?_166732069)_(175296559_?)del
NC_000001.9:g.(?_164998693)_(173563182_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381166,762,832 - 175,327,423CLINVAR
GRCh371166,732,069 - 175,296,559CLINVAR
Build 361164,998,693 - 173,563,182CLINVAR
Cytogenetic Map11q24.1-25.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620832
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.