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Variant : CV74747 (GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1) Homo sapiens

Symbol: CV74747
Name: GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1
Condition: See cases [RCV000054026]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADSS2   AHCTF1   AKT3   BECN2   C1orf100   C1orf229   CATSPERE   CEP170   CHML   CNST   COX20   DESI2   EFCAB2   EXO1   FH   FLJ39095   GCSAML   GCSAML-AS1   HNRNPU   KIF26B   KIF26B-AS1   KMO   LINC01341   LINC01347   LINC01743   LINC02774   LOC101928068   LOC107985115   LOC110120698   LOC110121251   LOC111828504   LOC112577566   LOC112577567   LOC112577568   LOC112577569   LOC115804253   MAP1LC3C   MIR3916   MIR4677   NLRP3   OPN3   OR13G1   OR2B11   OR2C3   OR2G2   OR2G3   PLD5   SCCPDH   SDCCAG8   SMYD3   SMYD3-AS1   SNORA100   TFB2M   VN1R5   WDR64   ZBTB18   ZNF124   ZNF496   ZNF669   ZNF670   ZNF670-ZNF695   ZNF695  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_241459440)_(247704671_?)del
NC_000001.10:g.(?_241622740)_(247867973_?)del
NC_000001.9:g.(?_239689363)_(245934596_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381241,459,440 - 247,704,671CLINVAR
GRCh371241,622,740 - 247,867,973CLINVAR
Build 361239,689,363 - 245,934,596CLINVAR
Cytogenetic Map11q43-44CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620939
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
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.