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

Variant : CV164818 (GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1) Homo sapiens

Symbol: CV164818
Name: GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1
Condition: See cases [RCV000143131]
Clinical Significance: pathogenic
Last Evaluated: 03/26/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB7   AMER1   AR   ARHGEF9   ARHGEF9-IT1   ARR3   ASB12   AWAT1   AWAT2   CDX4   CHIC1   CITED1   CXCR3   CXorf49   CXorf49B   CXorf65   DGAT2L6   DLG3   DLG3-AS1   DMRTC1   DMRTC1B   EDA   EDA2R   EFNB1   ERCC6L   FAAH2   FAM155B   FAM226A   FAM226B   FAM236A   FAM236B   FAM236C   FAM236D   FLJ44635   FOXO4   FTX   GCNA   GDPD2   GJB1   HDAC8   HEPH   IGBP1   IL2RG   ITGB1BP2   JPX   KIF4A   LAS1L   LINC00269   LINC00891   LINC01278   MAGEE1   MAGEE2   MED12   MIR1468   MIR223   MIR374A   MIR374B   MIR374C   MIR421   MIR545   MIR676   MSN   MTMR8   NAP1L2   NBDY   NEXMIF   NHSL2   NLGN3   NLRP2B   NONO   OGT   OPHN1   OTUD6A   P2RY4   PABPC1L2A   PABPC1L2B   PABPC1L2B-AS1   PBDC1   PDZD11   PHKA1   PHKA1-AS1   PIN4   PJA1   RAB41   RLIM   RPS4X   RTL5   SLC16A2   SLC7A3   SNORD3E   SNX12   SPIN2A   SPIN2B   SPIN3   SPIN4   STARD8   TAF1   TEX11   TSIX   UBQLN2   UPRT   VSIG4   XIST   YIPF6   ZC3H12B   ZC4H2   ZCCHC13   ZDHHC15   ZMYM3   ZXDA   ZXDB  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_56431359)_(76557419_?)del
NC_000023.10:g.(?_56457792)_(75777827_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X56,431,359 - 76,557,419CLINVAR
GRCh37X56,457,792 - 75,777,827CLINVAR
Build 36X56,474,517 - 75,694,231CLINVAR
Cytogenetic MapXXp11.21-q13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490729
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

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