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Variant : CV158300 (GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1) Homo sapiens

Symbol: CV158300
Name: GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1
Condition: See cases [RCV000137622]
Clinical Significance: likely pathogenic
Last Evaluated: 10/10/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAMTS3   AFM   AFP   ALB   AMBN   AMTN   ANKRD17   CABS1   COX18   CSN1S1   CSN2   CSN3   CXCL1   CXCL2   CXCL3   CXCL5   CXCL6   CXCL8   DCK   ENAM   FDCSP   GC   GRSF1   HTN1   HTN3   JCHAIN   LINC02499   MOB1B   MTHFD2L   MUC7   NPFFR2   ODAM   OPRPN   PF4   PF4V1   PPBP   PRR27   RASSF6   RUFY3   SLC4A4   SMR3A   SMR3B   STATH   SULT1B1   SULT1E1   TMPRSS11A   TMPRSS11B   TMPRSS11D   TMPRSS11E   TMPRSS11F   UGT2A1   UGT2A2   UGT2A3   UGT2B10   UGT2B11   UGT2B15   UGT2B17   UGT2B28   UGT2B4   UGT2B7   UTP3   YTHDC1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_67799665)_(74240920_?)del
NC_000004.11:g.(?_68665383)_(75106637_?)del
NC_000004.10:g.(?_68347978)_(75325501_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38467,799,665 - 74,240,920CLINVAR
GRCh37468,665,383 - 75,106,637CLINVAR
Build 36468,347,978 - 75,325,501CLINVAR
Cytogenetic Map44q13.2-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485175
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.