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Variant : CV554969 (GRCh37/hg19 10q26.3(chr10:131949020-135427143)x1) Homo sapiens

Symbol: CV554969
Name: GRCh37/hg19 10q26.3(chr10:131949020-135427143)x1
Condition: not provided [RCV000683274]
Clinical Significance: pathogenic
Last Evaluated: 11/28/2017
Review Status: no assertion criteria provided
Related Genes: ADAM8   ADGRA1   BNIP3   CALY   CFAP46   CYP2E1   DPYSL4   ECHS1   FUOM   GLRX3   INPP5A   JAKMIP3   KNDC1   LINC01166   LINC02870   LRRC27   MTG1   NKX6-2   PAOX   PPP2R2D   PRAP1   PWWP2B   SPRN   STK32C   SYCE1   TCERG1L   TCERG1L-AS1   TUBGCP2   UTF1   VENTX   ZNF511  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3710131,949,020 - 135,427,143CLINVAR
Cytogenetic Map1010q26.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13796427
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-05-26
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.