Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV157983 (GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1) Homo sapiens

Symbol: CV157983
Name: GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1
Condition: See cases [RCV000137307]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 04/08/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACBD7   ACBD7-DCLRE1CP1   AL157895.1   ARL5B   ATP5F1C   BEND7   C1QL3   CACNB2   CAMK1D   CCDC3   CDC123   CDNF   CELF2   CELF2-AS1   CELF2-AS2   CELF2-DT   CUBN   DCLRE1C   DHTKD1   ECHDC3   FAM107B   FAM171A1   FRMD4A   GATA3   GATA3-AS1   HACD1   HSPA14   HSPA14   ITGA8   ITIH2   ITIH5   KIN   LINC00708   LINC00709   LINC00710   LINC02642   LINC02643   LINC02654   LINC02670   LINC02676   LOC101928272   LOC101928453   LOC105376398   LOC107275222   LOC107275223   LOC107275226   LOC108353819   LOC108903148   LOC108903149   LOC110121355   LOC111501766   LOC111589212   LOC111946222   LOC111946223   LOC111946224   LOC111946225   LOC111946226   LOC111946227   LOC111946252   LOC116216112   MALRD1   MCM10   MEIG1   MINDY3   MIR1265   MIR1915   MIR1915HG   MIR4293   MIR4480   MIR4481   MIR4675   MIR511   MIR548AK   MIR548Q   MLLT10   MRC1   NEBL   NEBL-AS1   NMT2   NSUN6   NUDT5   OLAH   OPTN   PHYH   PLXDC2   PROSER2   PROSER2-AS1   PRPF18   PTER   RPP38   RPP38-DT   RSU1   SEC61A2   SEPHS1   SKIDA1   SLC39A12   SLC39A12-AS1   ST8SIA6   ST8SIA6-AS1   STAM   STAM-AS1   SUV39H2   TAF3   TMEM236   TRDMT1   UCMA   UPF2   USP6NL   USP6NL-AS1   VIM   VIM-AS1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_7428770)_(21587752_?)del
Human AssemblyChrPosition (strand)Source
GRCh38107,428,770 - 21,587,752CLINVAR
GRCh37107,470,732 - 21,876,681CLINVAR
Build 36107,510,738 - 21,916,687CLINVAR
Cytogenetic Map1010p14-12.31CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9484864
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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