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

Variant : CV73184 (GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2) Homo sapiens

Symbol: CV73184
Name: GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2
Condition: Macrocephaly [RCV000052362]|See cases [RCV000052362]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACE2   AMELX   AP1S2   ARHGAP6   ASB11   ASB9   ATXN3L   BMX   CA5B   CLCN4   CLDN34   CLTRN   CTPS2   EGFL6   FAM9C   FANCB   FRMPD4   GEMIN8   GLRA2   GPM6B   GPR143   GRPR   HCCS   INE2   LINC01203   LINC02154   MAGEB17   MID1   MIR548AM   MIR548AX   MIR6086   MOSPD2   MSL3   OFD1   PIGA   PIR   PRPS2   RAB9A   SHROOM2   TBL1X   TCEANC   TLR7   TLR8   TLR8-AS1   TMSB4X   TRAPPC2   VEGFD   WWC3   ZRSR2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_9038047)_(16646589_?)dup
NC_000023.10:g.(?_9006088)_(16664712_?)dup
NC_000023.9:g.(?_8966088)_(16574633_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X9,038,047 - 16,646,589CLINVAR
GRCh37X9,006,088 - 16,664,712CLINVAR
Build 36X8,966,088 - 16,574,633CLINVAR
Cytogenetic MapXXp22.31-22.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619352
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



NHLBI Logo

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