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Variant : CV73869 (GRCh38/hg38 16p13.11-12.3(chr16:15310595-18620659)x3) Homo sapiens

Symbol: CV73869
Name: GRCh38/hg38 16p13.11-12.3(chr16:15310595-18620659)x3
Condition: Autism [RCV000053099]|See cases [RCV000053099]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCC1   ABCC6   BMERB1   FOPNL   MARF1   MIR3179-2   MIR3179-3   MIR3179-4   MIR3180-2   MIR3180-3   MIR3670-2   MIR3670-3   MIR3670-4   MIR484   MIR6506   MIR6511A2   MIR6511A3   MIR6511A4   MIR6770-2   MIR6770-3   MPV17L   MYH11   NDE1   NOMO2   NOMO3   NPIPA5   NPIPA7   NPIPA8   XYLT1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_15310595)_(18620659_?)dup
NC_000016.9:g.(?_15404452)_(18631981_?)dup
NC_000016.8:g.(?_15311953)_(18539482_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381615,310,595 - 18,620,659CLINVAR
GRCh371615,404,452 - 18,631,981CLINVAR
Build 361615,311,953 - 18,539,482CLINVAR
Cytogenetic Map1616p13.11-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620047
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.