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

Variant : CV73205 (GRCh38/hg38 Xp22.12(chrX:19878110-20395102)x3) Homo sapiens

Symbol: CV73205
Name: GRCh38/hg38 Xp22.12(chrX:19878110-20395102)x3
Condition: Nonsyndromic microcephaly [RCV000052385]|See cases [RCV000052385]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BCLAF3   EIF1AX   EIF1AX-AS1   MAP7D2   MIR23C   RPS6KA3   SCARNA9L   SH3KBP1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_19878110)_(20395102_?)dup
NC_000023.10:g.(?_19896228)_(20413220_?)dup
NC_000023.9:g.(?_19806149)_(20323141_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X19,878,110 - 20,395,102CLINVAR
GRCh37X19,896,228 - 20,413,220CLINVAR
Build 36X19,806,149 - 20,323,141CLINVAR
Cytogenetic MapXXp22.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619373
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



NHLBI Logo

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