Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV74524 (GRCh38/hg38 13q34(chr13:112292922-113636272)x3) Homo sapiens

Symbol: CV74524
Name: GRCh38/hg38 13q34(chr13:112292922-113636272)x3
Condition: Macrocephaly [RCV000053800]|See cases [RCV000053800]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADPRHL1   ATP11A   ATP11A-AS1   ATP11AUN   CUL4A   DCUN1D2   F10   F10-AS1   F7   GRTP1   GRTP1-AS1   LAMP1   LINC01043   LINC01044   LOC101928841   MCF2L   MCF2L-AS1   MIR8075   PCID2   PROZ   SPACA7   TFDP1   TMCO3   TUBGCP3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_112292922)_(113636272_?)dup
NC_000013.10:g.(?_112947236)_(114290587_?)dup
NC_000013.9:g.(?_111995237)_(113338588_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3813112,292,922 - 113,636,272CLINVAR
GRCh3713112,947,236 - 114,290,587CLINVAR
Build 3613111,995,237 - 113,338,588CLINVAR
Cytogenetic Map1313q34CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620715
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE



NHLBI Logo

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