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Variant : CV158879 (GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1) Homo sapiens

Symbol: CV158879
Name: GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1
Condition: See cases [RCV000138186]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 02/20/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD10   ABI3BP   AC112487.1   ADGRG7   ALCAM   ARL6   ATG3   ATP6V1A   BBX   BOC   BTLA   C3orf52   C3orf85   CBLB   CCDC191   CCDC54   CCDC80   CD200   CD200R1   CD200R1L   CD200R1L-AS1   CD47   CD96   CEP97   CFAP44   CFAP44-AS1   CIP2A   CLDND1   CMSS1   COL8A1   CPOX   CRYBG3   DCBLD2   DPPA2   DPPA4   DRD3   DUBR   DZIP3   FILIP1L   GABRR3   GAP43   GCSAM   GPR15   GRAMD1C   GTPBP8   GUCA1C   HHLA2   IFT57   IMPG2   LINC00488   LINC00635   LINC00636   LINC00882   LINC01205   LINC01215   LINC01990   LINC02042   LINC02044   LINC02085   LNP1   MIR3921   MIR4445   MIR4446   MIR4796   MIR548AB   MIR567   MIR568   MIR8076   MIR9900   MORC1   MORC1-AS1   MYH15   NAA50   NECTIN3   NECTIN3-AS1   NEPRO   NFKBIZ   NIT2   NXPE3   OR5AC2   OR5H1   OR5H14   OR5H15   OR5H2   OR5H6   OR5K1   OR5K2   OR5K3   OR5K4   PCNP   PHLDB2   PLCXD2   PLCXD2-AS1   QTRT2   RETNLB   RIOX2   RPL24   SENP7   SIDT1   SLC35A5   SLC9C1   SPICE1   ST3GAL6   ST3GAL6-AS1   TAGLN3   TBC1D23   TBILA   TFG   TIGIT   TMEM45A   TMPRSS7   TOMM70   TRAT1   TRMT10C   USF3   ZBED2   ZBTB11   ZBTB11-AS1   ZBTB20   ZBTB20-AS1   ZBTB20-AS3   ZBTB20-AS4   ZBTB20-AS5   ZDHHC23   ZNF80   ZPLD1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_97795369)_(115663349_?)del
NC_000003.11:g.(?_97514213)_(115382196_?)del
NC_000003.10:g.(?_98996903)_(116864886_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38397,795,369 - 115,663,349CLINVAR
GRCh37397,514,213 - 115,382,196CLINVAR
Build 36398,996,903 - 116,864,886CLINVAR
Cytogenetic Map33q11.2-13.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485735
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.