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Variant : CV163947 (GRCh38/hg38 9p24.3-24.2(chr9:203861-4585050)x1) Homo sapiens

Symbol: CV163947
Name: GRCh38/hg38 9p24.3-24.2(chr9:203861-4585050)x1
Condition: See cases [RCV000142301]
Clinical Significance: pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: DMRT1   DMRT2   DMRT3   DOCK8   DOCK8-AS1   GLIS3   GLIS3-AS1   KANK1   KCNV2   LINC01230   LINC01231   PUM3   RFX3   RFX3-AS1   SLC1A1   SMARCA2   SPATA6L   VLDLR   VLDLR-AS1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_203861)_(4585050_?)del
Human AssemblyChrPosition (strand)Source
GRCh389203,861 - 4,585,050CLINVAR
GRCh379203,861 - 4,585,050CLINVAR
Build 369193,861 - 4,575,050CLINVAR
Cytogenetic Map99p24.3-24.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489820
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.