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Variant : CV654159 (Single allele) Homo sapiens

Symbol: CV654159
Name: Single allele
Condition: Chromosome 15q11-q13 duplication syndrome [RCV000825026]
Clinical Significance: pathogenic
Last Evaluated: 10/16/2018
Review Status: criteria provided, single submitter
Related Genes: ATP10A   GABRA5   GABRB3   GABRG3   HERC2   IPW   MAGEL2   MKRN3   NDN   NPAP1   OCA2   PWAR1   PWAR4   PWAR5   PWAR6   PWARSN   PWRN1   PWRN2   SNORD115-1   SNORD116-1   SNRPN   SNURF   UBE3A  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371523,810,928 - 28,544,664CLINVAR
Cytogenetic Map1515q11.2-13.1CLINVAR
Trait Synonyms: 15q11.2-q13.1 Duplication Syndrome; DUPLICATION 15q11-q13 SYNDROME

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14703056
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


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