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Variant : CV71738 (GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1) Homo sapiens

Symbol: CV71738
Name: GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1
Condition: Abnormality of mitochondrial metabolism [RCV000050786]|See cases [RCV000050786]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABRAXAS1   ANTXR2   ANXA3   ART3   BMP2K   BMP3   CCDC158   CCNG2   CCNI   CDKL2   CFAP299   CNOT6L   COPS4   COQ2   CXCL10   CXCL11   CXCL13   CXCL9   ENOPH1   FAM47E   FAM47E-STBD1   FGF5   FRAS1   G3BP2   GK2   GPAT3   HELQ   HNRNPD   HNRNPDL   HPSE   LIN54   LINC00575   LINC00989   LINC01088   LINC01094   MIR4450   MIR548AH   MIR575   MRPL1   MRPS18C   NAA11   NAAA   NUP54   ODAPH   PAQR3   PCAT4   PLAC8   PPEF2   PRDM8   PRKG2   RASGEF1B   RCHY1   SCARB2   SCD5   SDAD1   SEC31A   SEPTIN11   SHROOM3   SNORD143   SNORD144   SNORD161   SOWAHB   STBD1   THAP6   THAP9   THAP9-AS1   TMEM150C   USO1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_75453111)_(84094295_?)del
NC_000004.11:g.(?_76378321)_(85015448_?)del
NC_000004.10:g.(?_76597345)_(85234472_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38475,453,111 - 84,094,295CLINVAR
GRCh37476,378,321 - 85,015,448CLINVAR
Build 36476,597,345 - 85,234,472CLINVAR
Cytogenetic Map44q21.1-21.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617863
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
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.