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Variant : CV158475 (GRCh38/hg38 9q33.3(chr9:123324308-123980252)x1) Homo sapiens

Symbol: CV158475
Name: GRCh38/hg38 9q33.3(chr9:123324308-123980252)x1
Condition: See cases [RCV000137790]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 09/20/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CRB2   DENND1A   MIR601   MIR7150  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_123324308)_(123980252_?)del
NC_000009.11:g.(?_126086587)_(126742531_?)del
NC_000009.10:g.(?_125126408)_(125782352_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh389123,324,308 - 123,980,252CLINVAR
GRCh379126,086,587 - 126,742,531CLINVAR
Build 369125,126,408 - 125,782,352CLINVAR
Cytogenetic Map99q33.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485342
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.