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Variant : CV74637 (GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1) Homo sapiens

Symbol: CV74637
Name: GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1
Condition: Cryptorchidism, unilateral or bilateral [RCV000053914]|See cases [RCV000053914]
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   ALDH9A1   ANKRD45   ATF6   ATP1B1   BLZF1   C1orf105   C1orf112   C1orf226   CCDC181   CCDC190   CD247   CENPL   CREG1   DARS2   DCAF6   DDR2   DNM3   DNM3-IT1   DNM3OS   DPT   DUSP12   DUSP27   EEF1AKNMT   F5   FAM78B   FAM78B-AS1   FASLG   FMO1   FMO2   FMO3   FMO4   GAS5   GAS5-AS1   GORAB   GORAB-AS1   GPA33   GPR161   HSD17B7   ILDR2   KIFAP3   KLHL20   LINC00626   LINC00970   LINC01142   LINC01363   LINC01675   LINC01681   LMX1A   LMX1A-AS1   LMX1A-AS2   LRRC52   LRRC52-AS1   MAEL   METTL11B   METTL18   MGST3   MIR1255B2   MIR1295A   MIR1295B   MIR199A2   MIR214   MIR3119-1   MIR3119-2   MIR3120   MIR3658   MIR4654   MIR556   MIR557   MIR921   MPC2   MPZL1   MROH9   MYOC   MYOCOS   NME7   NOS1AP   NUF2   OLFML2B   PBX1   PBX1-AS1   PIGC   POGK   POU2F1   PRDX6   PRRC2C   PRRX1   RC3H1   RCSD1   RGS4   RGS5   RXRG   SCYL3   SELE   SELL   SELP   SERPINC1   SFT2D2   SH2D1B   SLC19A2   SLC9C2   SNORA103   SNORD44   SNORD47   SNORD74   SNORD75   SNORD76   SNORD77   SNORD78   SNORD79   SNORD80   SNORD81   SPATA46   SUCO   TADA1   TBX19   TEX50   TIPRL   TMCO1   TMCO1-AS1   TNFSF18   TNFSF4   TRP-AGG2-1   TRP-CGG1-1   UAP1   UCK2   UHMK1   VAMP4   XCL1   XCL2   ZBTB37  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_161740907)_(173965154_?)del
NC_000001.10:g.(?_161710697)_(173934292_?)del
NC_000001.9:g.(?_159977321)_(172200915_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381161,740,907 - 173,965,154CLINVAR
GRCh371161,710,697 - 173,934,292CLINVAR
Build 361159,977,321 - 172,200,915CLINVAR
Cytogenetic Map11q23.3-25.1CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620829
Created: 2014-05-13
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.