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Variant : CV72568 (GRCh38/hg38 Xq22.1-22.3(chrX:101407698-106274188)x1) Homo sapiens

Symbol: CV72568
Name: GRCh38/hg38 Xq22.1-22.3(chrX:101407698-106274188)x1
Condition: Arthrogryposis multiplex congenita [RCV000051715]|See cases [RCV000051715]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   ESX1   FAM199X   GLA   GPRASP1   GPRASP2   H2BW1   H2BW2   HNRNPH2   IL1RAPL2   LINC00630   LINC02589   MORF4L2   MORF4L2-AS1   NRK   NXF2   NXF2B   NXF3   NXF5   PLP1   PWWP3B   RAB40A   RAB40AL   RAB9B   RPL36A-HNRNPH2   SERPINA7   SLC25A53   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X1   TCP11X2   TEX13A   TMEM31   TMSB15A   TMSB15B   TMSB15B-AS1   ZCCHC18   ZMAT1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_101407698)_(106274188_?)del
NC_000023.10:g.(?_100772737)_(105517404_?)del
NC_000023.9:g.(?_100549342)_(105404060_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X101,407,698 - 106,274,188CLINVAR
GRCh37X100,772,737 - 105,517,404CLINVAR
Build 36X100,549,342 - 105,404,060CLINVAR
Cytogenetic MapXXq22.1-22.3CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 100 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618728
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
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.