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Variant : CV74401 (GRCh38/hg38 8p23.1-22(chr8:12383108-12809999)x3) Homo sapiens

Symbol: CV74401
Name: GRCh38/hg38 8p23.1-22(chr8:12383108-12809999)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053673]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053673]|See cases [RCV000053673]
Clinical Significance: benign
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: FAM66A   FAM86B2   LINC00681   LONRF1   MIR3926-1   MIR3926-2   MIR5692A2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_12383108)_(12809999_?)dup
NC_000008.10:g.(?_12240617)_(12667508_?)dup
NC_000008.9:g.(?_12284988)_(12711879_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38812,383,108 - 12,809,999CLINVAR
GRCh37812,240,617 - 12,667,508CLINVAR
Build 36812,284,988 - 12,711,879CLINVAR
Cytogenetic Map88p23.1-22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620591
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.