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Variant : CV156252 (GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1) Homo sapiens

Symbol: CV156252
Name: GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1
Condition: See cases [RCV000135782]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACHE   ACTL6B   AGFG2   AP1S1   AP4M1   ARPC1A   ARPC1B   ATP5MF   ATP5MF-PTCD1   AZGP1   BUD31   C7orf61   CASTOR3   CLDN15   CNPY4   COL26A1   COPS6   CPSF4   CUX1   CYP3A4   CYP3A43   CYP3A5   CYP3A7   CYP3A7-CYP3A51P   EMSLR   EPHB4   EPO   FAM200A   FBXO24   FIS1   GAL3ST4   GIGYF1   GJC3   GNB2   GPC2   IFT22   KPNA7   LAMTOR4   LINC01007   LNCPRESS1   LRCH4   MAP11   MBLAC1   MCM7   MEPCE   MIR106B   MIR12119   MIR25   MIR4653   MIR4658   MIR6840   MIR6875   MIR93   MOGAT3   MOSPD3   MUC12   MUC12-AS1   MUC17   MUC3A   MYL10   NAT16   NYAP1   OR2AE1   PCOLCE   PCOLCE-AS1   PDAP1   PILRA   PILRB   PLOD3   POP7   PPP1R35   PPP1R35-AS1   PTCD1   PVRIG   SAP25   SERPINE1   SLC12A9   SLC12A9-AS1   SPDYE3   SRRT   STAG3   STAG3L5P-PVRIG2P-PILRB   TAF6   TFR2   TMEM225B   TRIM4   TRIM56   TRIP6   TRW-CCA5-1   TSC22D4   UFSP1   VGF   ZAN   ZCWPW1   ZKSCAN1   ZKSCAN5   ZNF3   ZNF394   ZNF655   ZNF789   ZNHIT1   ZSCAN21   ZSCAN25  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_99195836)_(102258175_?)del
Human AssemblyChrPosition (strand)Source
GRCh38799,195,836 - 102,258,175CLINVAR
GRCh37798,793,459 - 101,718,950 (+)CLINVAR
Build 36798,631,395 - 101,688,175CLINVAR
Cytogenetic Map77q22.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9483348
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


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