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Variant : CV164503 (GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3) Homo sapiens

Symbol: CV164503
Name: GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3
Condition: See cases [RCV000142816]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AK3   CDC37L1   CDC37L1-DT   DMRT1   DMRT2   DMRT3   DOCK8   DOCK8-AS1   GLIS3   GLIS3-AS1   KANK1   KCNV2   LINC01230   LINC01231   MIR101-2   PLPP6   PUM3   RCL1   RFX3   RFX3-AS1   SLC1A1   SMARCA2   SPATA6L   VLDLR   VLDLR-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_204090)_(4970154_?)dup
NC_000009.11:g.(?_204090)_(4970154_?)dup
NC_000009.10:g.(?_194090)_(4960154_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389204,090 - 4,970,154CLINVAR
GRCh379204,090 - 4,970,154CLINVAR
Build 369194,090 - 4,960,154CLINVAR
Cytogenetic Map99p24.3-24.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490414
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.