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Variant : CV157502 (GRCh38/hg38 5p15.33-15.31(chr5:1544285-8681441)x3) Homo sapiens

Symbol: CV157502
Name: GRCh38/hg38 5p15.33-15.31(chr5:1544285-8681441)x3
Condition: See cases [RCV000136901]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAMTS16   ADCY2   C5orf38   C5orf49   FASTKD3   ICE1   IRX1   IRX2   IRX4   IRX4-AS1   LINC01017   LINC01018   LINC01019   LINC01020   LINC01377   LINC02063   LINC02102   LINC02114   LINC02116   LINC02121   LINC02123   LINC02142   LINC02145   LINC02162   LINC02226   LINC02236   LSINCT5   MED10   MIR4277   MIR4278   MIR4458   MIR4458HG   MRPL36   MTRR   NDUFS6   NSUN2   SRD5A1   TENT4A   UBE2QL1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_1544285)_(8681441_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3851,544,285 - 8,681,441CLINVAR
GRCh3751,544,400 - 8,681,553CLINVAR
Build 3651,597,400 - 8,734,553CLINVAR
Cytogenetic Map55p15.33-15.31CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9484462
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-26
Status: ACTIVE


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