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Variant : CV554854 (GRCh37/hg19 9p24.3-24.1(chr9:203861-4959039)x1) Homo sapiens

Symbol: CV554854
Name: GRCh37/hg19 9p24.3-24.1(chr9:203861-4959039)x1
Condition: not provided [RCV000683159]
Clinical Significance: pathogenic
Last Evaluated: 09/20/2017
Review Status: no assertion criteria provided
Related Genes: AK3   CDC37L1   DMRT1   DMRT2   DMRT3   DOCK8   DOCK8-AS1   GLIS3   KANK1   KCNV2   MIR101-2   PLPP6   PUM3   RCL1   RFX3   SLC1A1   SMARCA2   SPATA6L   VLDLR  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh379203,861 - 4,959,039CLINVAR
Cytogenetic Map99p24.3-24.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13796091
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.