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Variant : CV155372 (GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1) Homo sapiens

Symbol: CV155372
Name: GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1
Condition: See cases [RCV000134955]
Clinical Significance: likely pathogenic
Last Evaluated: 01/24/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALPK1   ANK2   AP1AR   ARSJ   CAMK2D   FAM241A   LARP7   MIR1243   MIR1973   MIR302A   MIR302B   MIR302C   MIR302CHG   MIR302D   MIR367   MIR577   MIR8082   NDST4   NEUROG2   NEUROG2-AS1   TIFA   UGT8   ZGRF1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_111069785)_(116691879_?)del
NC_000004.11:g.(?_111990941)_(117613035_?)del
NC_000004.10:g.(?_112210390)_(117832483_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh384111,069,785 - 116,691,879CLINVAR
GRCh374111,990,941 - 117,613,035CLINVAR
Build 364112,210,390 - 117,832,483CLINVAR
Cytogenetic Map44q25-26CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482528
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.