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Variant : CV157474 (GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1) Homo sapiens

Symbol: CV157474
Name: GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1
Condition: See cases [RCV000136878]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAM18   ADAM2   ADAM32   ADAM9   ADGRA2   ADRB3   ASH2L   BAG4   BRF2   C8orf86   DCTN6   DDHD2   DUSP26   EIF4EBP1   ERLIN2   FGFR1   FUT10   GOT1L1   GSR   GTF2E2   HTRA4   IDO1   IDO2   KCNU1   LEPROTL1   LETM2   LINC00589   LINC01288   LINC01605   LINC02099   LINC02209   LINC02866   LSM1   MAK16   MBOAT4   MIR3148   NRG1   NRG1-IT1   NRG1-IT3   NSD3   PLEKHA2   PLPBP   PLPP5   PPP2CB   PURG   RAB11FIP1   RBPMS   RBPMS-AS1   RNF122   SARAF   SMIM18   SNORD13   SNORD38D   STAR   TACC1   TCIM   TEX15   TM2D2   TTI2   UBXN8   UNC5D   WRN   ZNF703  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_29362097)_(40231708_?)del
NC_000008.10:g.(?_29219614)_(40089227_?)del
NC_000008.9:g.(?_29275533)_(40208384_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38829,362,097 - 40,231,708CLINVAR
GRCh37829,219,614 - 40,089,227CLINVAR
Build 36829,275,533 - 40,208,384CLINVAR
Cytogenetic Map88p12-11.21CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484439
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.