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Variant : CV157947 (GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3) Homo sapiens

Symbol: CV157947
Name: GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3
Condition: See cases [RCV000137271]
Clinical Significance: likely pathogenic
Last Evaluated: 03/21/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARAF   CACNA1F   CCDC120   CCDC22   CDK16   CFP   CHST7   DIPK2B   DUSP21   EBP   ELK1   ERAS   FLICR   FOXP3   FTSJ1   GAGE10   GAGE12B   GAGE12I   GAGE12J   GAGE13   GAGE2B   GAGE2C   GAGE8   GATA1   GLOD5   GPKOW   GRIPAP1   HDAC6   INE1   JADE3   KCND1   KDM6A   KRBOX4   LINC01186   LINC01204   LINC01545   LINC01560   LINC02595   MAGIX   MIR221   MIR222   MIR4769   NDUFB11   OTUD5   PCSK1N   PIM2   PLP2   PORCN   PPP1R3F   PQBP1   PRAF2   PRICKLE3   RBM10   RBM3   RGN   RP2   SLC35A2   SLC38A5   SLC9A7   SNORA11C   SPACA5   SPACA5B   SSX1   SSX3   SSX4   SSX4B   SSX5   SUV39H1   SYN1   SYP   SYP-AS1   TBC1D25   TFE3   TIMM17B   TIMP1   UBA1   USP11   UXT   UXT-AS1   WAS   WDR13   WDR45   ZNF157   ZNF182   ZNF41   ZNF630   ZNF630-AS1   ZNF674   ZNF674-AS1   ZNF81  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_44765664)_(49343053_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X44,765,664 - 49,343,053 (+)CLINVAR
GRCh37X44,624,910 - 49,218,180CLINVAR
Build 36X44,509,854 - 49,105,124CLINVAR
Cytogenetic MapXXp11.3-11.23CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9484828
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE


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