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Variant : CV71576 (GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x1) Homo sapiens

Symbol: CV71576
Name: GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x1
Condition: Muscular hypotonia [RCV000050376]|See cases [RCV000050376]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter
Related Genes: ARHGAP11B   CHRNA7   FAN1   GOLGA8H   GOLGA8O   KLF13   MIR211   MTMR10   OTUD7A   TRPM1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_30438310)_(32569425_?)del
NC_000015.9:g.(?_30730513)_(32861626_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381530,438,310 - 32,569,425CLINVAR
GRCh371530,730,513 - 32,861,626CLINVAR
Cytogenetic Map1515q13.2-13.3CLINVAR
Trait Synonyms: Fever; Seizure




Additional Information

 
RGD Object Information
RGD ID: 8617629
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2014-12-02
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.