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

Variant : CV158199 (GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1) Homo sapiens

Symbol: CV158199
Name: GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1
Condition: See cases [RCV000137522]
Clinical Significance: pathogenic
Last Evaluated: 02/18/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALKBH4   ANKRD7   ARMC10   ASZ1   ATXN7L1   BCAP29   BMT2   C7orf66   CAPZA2   CAV1   CAV2   CBLL1   CCDC71L   CDHR3   CFTR   CFTR-AS1   COG5   COMETT   CPED1   CTTNBP2   CUX1   DLD   DNAJB9   DNAJC2   DOCK4   DOCK4-AS1   DUS4L   DUS4L-BCAP29   EFCAB10   FAM185A   FBXL13   FOXP2   GPR22   GPR85   HBP1   IFRD1   IMMP2L   ING3   KCND2   KMT2E   KMT2E-AS1   LAMB1   LAMB4   LHFPL3   LHFPL3-AS1   LHFPL3-AS2   LINC01004   LINC01392   LINC01393   LINC02476   LRRC17   LRRN3   LRWD1   LSM8   LSMEM1   MDFIC   MET   MIR3666   MIR4285   MIR4467   MIR5090   MIR548O   MIR6132   NAMPT   NAPEPLD   NFE4   NRCAM   ORAI2   ORC5   PIK3CG   PMPCB   PNPLA8   POLR2J   POLR2J2   POLR2J3   PPP1R3A   PRKAR2B   PRKRIP1   PSMC2   PUS7   RASA4   RASA4B   RELN   RINT1   SH2B2   SLC26A3   SLC26A4   SLC26A4-AS1   SLC26A5   SMIM30   SNORA25B   SPDYE2   SPDYE2B   SPDYE6   SRPK2   ST7   ST7-AS1   ST7-AS2   ST7-OT3   ST7-OT4   SYPL1   TES   TFEC   THAP5   TMEM168   TSPAN12   UPK3BL1   UPK3BL2   WNT2   ZNF277  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_102196924)_(121278641_?)del
Human AssemblyChrPosition (strand)Source
GRCh387102,196,924 - 121,278,641CLINVAR
GRCh377101,912,320 - 120,918,695 (+)CLINVAR
Build 367101,626,924 - 120,705,931CLINVAR
Cytogenetic Map77q22.1-31.31CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9485077
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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