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Variant : CV74904 (GRCh38/hg38 Xp11.23(chrX:48612125-49292405)x2) Homo sapiens

Symbol: CV74904
Name: GRCh38/hg38 Xp11.23(chrX:48612125-49292405)x2
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054185]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054185]|See cases [RCV000054185]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CACNA1F   CCDC120   CCDC22   ERAS   FLICR   FOXP3   GATA1   GLOD5   GPKOW   GRIPAP1   HDAC6   KCND1   MAGIX   OTUD5   PCSK1N   PIM2   PLP2   PPP1R3F   PQBP1   PRAF2   PRICKLE3   SLC35A2   SUV39H1   SYP   SYP-AS1   TFE3   TIMM17B   WAS   WDR45  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_48612125)_(49292405_?)dup
NC_000023.9:g.(?_48355457)_(49035817_?)dup
NC_000023.10:g.(?_48510591)_(49148873_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X48,612,125 - 49,292,405CLINVAR
GRCh37X48,510,591 - 49,148,873 (+)CLINVAR
Build 36X48,355,457 - 49,035,817CLINVAR
Cytogenetic MapXXp11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8621096
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-06
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.