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Variant : CV614158 (GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1) Homo sapiens

Symbol: CV614158
Name: GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1
Condition: Premature ovarian insufficiency [RCV000852349]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCD1   ACTRT1   ADGRG4   AFF2   AIFM1   APLN   ARHGAP36   ARHGAP4   ARHGEF6   ATP11C   ATP2B3   ATP6AP1   AVPR2   BCAP31   BCORL1   BGN   BRCC3   BRS3   CCDC160   CCNQ   CD40LG   CD99L2   CDR1   CETN2   CLIC2   CMC4   CNGA2   CSAG1   CSAG3   CT45A1   CT45A2   CT45A3   CT45A5   CT45A6   CT55   CTAG1A   CTAG1B   CTAG2   CXorf51A   CXorf51B   CXorf66   DCAF12L1   DCAF12L2   DKC1   DNASE1L1   DUSP9   ELF4   EMD   ENOX2   EOLA1   EOLA2   F8   F8A1   F8A2   F8A3   F9   FAM122B   FAM122C   FAM3A   FAM50A   FATE1   FGF13   FHL1   FLNA   FMR1   FMR1-AS1   FMR1NB   FRMD7   FUNDC2   G6PD   GAB3   GABRA3   GABRE   GABRQ   GDI1   GPC3   GPC4   GPR101   GPR119   GPR50   GPR50-AS1   H2AB1   H2AB2   H2AB3   HAUS7   HCFC1   HMGB3   HPRT1   HS6ST2   HSFX1   HSFX2   HTATSF1   IDH3G   IDS   IGSF1   IKBKG   INTS6L   IRAK1   L1CAM   LAGE3   LDOC1   MAGEA1   MAGEA10   MAGEA11   MAGEA12   MAGEA2   MAGEA2B   MAGEA3   MAGEA4   MAGEA5   MAGEA6   MAGEA8   MAGEA9   MAGEA9B   MAGEC1   MAGEC2   MAGEC3   MAMLD1   MAP7D3   MBNL3   MCF2   MECP2   MIR105-1   MIR105-2   MIR106A   MIR19B2   MIR224   MIR424   MIR503   MIR506   MIR508   MIR509-1   MIR509-3   MIR510   MMGT1   MOSPD1   MPP1   MTCP1   MTM1   MTMR1   NAA10   NSDHL   OCRL   OPN1LW   OPN1MW   OPN1MW2   OR13H1   PASD1   PDZD4   PHF6   PLAC1   PLXNA3   PLXNB3   PNCK   PNMA3   PNMA5   PNMA6A   PNMA6E   PRR32   PRRG3   RAB33A   RAB39B   RAP2C   RBMX   RBMX2   RENBP   RPL10   RTL8A   RTL8B   RTL8C   SAGE1   SASH3   SH2D1A   SLC10A3   SLC25A14   SLC6A8   SLC9A6   SLITRK2   SLITRK4   SMARCA1   SMIM10   SMIM9   SOX3   SPANXA1   SPANXA2   SPANXB1   SPANXC   SPANXD   SPANXN1   SPANXN2   SPANXN3   SPANXN4   SRPK3   SSR4   STAG2   STK26   TAZ   TENM1   TEX28   TFDP3   THOC2   TKTL1   TMEM185A   TMEM187   TMLHE   TREX2   UBE2NL   UBL4A   USP26   UTP14A   VBP1   VGLL1   VMA21   XIAP   XPNPEP2   ZDHHC9   ZFP92   ZIC3   ZNF185   ZNF275   ZNF280C   ZNF449   ZNF75D  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37X122,757,437 - 155,208,244CLINVAR
Cytogenetic MapXXq25-28CLINVAR
Trait Synonyms: Climacterium praecox; Early menopause; Hypergonadotropic amenorrhea; Menopause praecox; Premature menopause

Additional Information

External Database Links
RGD Object Information
RGD ID: 15014842
Created: 2019-11-12
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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