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Variant : CV614014 (GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310)) Homo sapiens

Symbol: CV614014
Name: GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310)
Condition: Chromosome 15q11-q13 duplication syndrome [RCV000767718]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ATP10A   CYFIP1   GABRA5   GABRB3   GABRG3   GOLGA6L1   GOLGA6L2   GOLGA6L6   HERC2   IPW   MAGEL2   MKRN3   NDN   NIPA1   NIPA2   NPAP1   OCA2   OR4M2   OR4N4   POTEB   POTEB2   PWAR1   PWAR4   PWAR5   PWAR6   PWARSN   PWRN1   PWRN2   SNORD115-1   SNORD116-1   SNRPN   SNURF   TUBGCP5   UBE3A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371520,191,652 - 28,525,310CLINVAR
Cytogenetic Map1515q11.1-13.1CLINVAR
Trait Synonyms: 15q11.2-q13.1 Duplication Syndrome; DUPLICATION 15q11-q13 SYNDROME



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14399673
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2019-10-01
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.