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Variant : CV73373 (GRCh38/hg38 10q24.32(chr10:101416272-101689575)x1) Homo sapiens

Symbol: CV73373
Name: GRCh38/hg38 10q24.32(chr10:101416272-101689575)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052566]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052566]|See cases [RCV000052566]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BTRC   DPCD   FBXW4   MIR3158-1   MIR3158-2   POLL  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_101416272)_(101689575_?)del
NC_000010.10:g.(?_103176029)_(103449332_?)del
NC_000010.9:g.(?_103166019)_(103439322_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3810101,416,272 - 101,689,575CLINVAR
GRCh3710103,176,029 - 103,449,332CLINVAR
Build 3610103,166,019 - 103,439,322CLINVAR
Cytogenetic Map1010q24.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619542
Created: 2014-05-13
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.