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Variant : CV223464 (GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1) Homo sapiens

Symbol: CV223464
Name: GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1
Condition: Premature ovarian failure [RCV000225336]
Clinical Significance: pathogenic
Last Evaluated: 01/07/2015
Review Status: criteria provided, single submitter
Related Genes: ACSL4   AGTR2   AKAP14   ALG13   AMMECR1   AMOT   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ATG4A   ATP1B4   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   BTK   C1GALT1C1   CAPN6   CENPI   CHRDL1   CLDN2   COL4A5   COL4A6   CSTF2   CT47A1   CT47A10   CT47A11   CT47A12   CT47A2   CT47A3   CT47A4   CT47A5   CT47A6   CT47A7   CT47A8   CT47A9   CT47B1   CT83   CUL4B   CXorf56   DANT2   DCX   DOCK11   DRP2   ESX1   FAM199X   FRMPD3   GLA   GLUD2   GPRASP1   GPRASP2   GUCY2F   H2BW1   H2BW2   HNRNPH2   HTR2C   IL13RA1   IL13RA2   IL1RAPL2   IRS4   KCNE5   KIAA1210   KLHL13   LAMP2   LHFPL1   LONRF3   LRCH2   LUZP4   MCTS1   MID2   MIR448   MORC4   MORF4L2   NDUFA1   NKAP   NKRF   NOX1   NRK   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   PAK3   PGRMC1   PIH1D3   PLP1   PLS3   PRPS1   PSMD10   PWWP3B   RAB40A   RAB40AL   RAB9B   RADX   RBM41   RBMXL3   RHOXF1   RHOXF2   RHOXF2B   RIPPLY1   RNF113A   RNF128   RPL36A   RPL36A-HNRNPH2   RPL39   RTL4   RTL9   SEPTIN6   SERPINA7   SLC25A43   SLC25A5   SLC25A53   SLC6A14   SOWAHD   SYTL4   TAF7L   TBC1D8B   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X2   TEX13A   TEX13B   TIMM8A   TMEM164   TMEM255A   TMEM31   TMEM35A   TMSB15A   TMSB15B   TRMT2B   TRPC5   TRPC5OS   TSC22D3   UBE2A   UPF3B   VSIG1   WDR44   XKRX   ZBTB33   ZCCHC12   ZCCHC18   ZMAT1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: reference population
Position
Human AssemblyChrPosition (strand)Source
GRCh37X99,931,059 - 120,328,627CLINVAR
Cytogenetic MapXXq22.1-24CLINVAR
Trait Synonyms: FRAGILE X PREMATURE OVARIAN FAILURE; Primary ovarian insufficiency; PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11345297
Created: 2016-07-12
Species: Homo sapiens
Last Modified: 2019-10-15
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.