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

Variant : CV223458 (GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1) Homo sapiens

Symbol: CV223458
Name: GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1
Condition: Premature ovarian failure [RCV000225330]
Clinical Significance: benign
Last Evaluated: 01/07/2015
Review Status: criteria provided, single submitter
Related Genes: ADORA2A   AIFM3   ARVCF   BCR   C22orf15   C22orf39   CABIN1   CCDC116   CDC45   CHCHD10   CLDN5   CLTCL1   COMT   CRKL   CRYBB2   CRYBB3   DDT   DDTL   DERL3   DGCR2   DGCR6   DGCR6L   DGCR8   DRICH1   ESS2   FAM230A   GGT1   GGT2   GGT5   GGTLC2   GGTLC3   GNAZ   GNB1L   GP1BB   GSC2   GSTT1   GSTT2   GSTT2B   GUCD1   HIC2   HIRA   IGLC1   IGLL1   IGLL5   KIAA1671   KLHL22   LRP5L   LRRC75B   LZTR1   MAPK1   MED15   MIF   MIR130B   MMP11   MRPL40   P2RX6   PI4KA   PIWIL3   PPIL2   PPM1F   PPM1F-AS1   PRAME   PRODH   RAB36   RANBP1   RGL4   RIMBP3   RIMBP3B   RIMBP3C   RSPH14   RTL10   RTN4R   SCARF2   SDF2L1   SEPTIN5   SERPIND1   SGSM1   SLC25A1   SLC2A11   SLC7A4   SMARCB1   SNAP29   SNRPD3   SPECC1L   SUSD2   TANGO2   TBX1   THAP7   TMEM191B   TMEM191C   TMEM211   TOP3B   TRMT2A   TSSK2   TXNRD2   UBE2L3   UFD1   UPB1   USP41   VPREB1   VPREB3   YDJC   YPEL1   ZDHHC8   ZNF280A   ZNF280B   ZNF70   ZNF74  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: reference population
Position
Human AssemblyChrPosition (strand)Source
GRCh372218,738,296 - 25,914,592CLINVAR
Cytogenetic Map2222q11.21-12.1CLINVAR
Trait Synonyms: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11345292
Created: 2016-07-12
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



NHLBI Logo

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