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Variant : CV74125 (GRCh38/hg38 6q22.31(chr6:118509086-119604498)x3) Homo sapiens

Symbol: CV74125
Name: GRCh38/hg38 6q22.31(chr6:118509086-119604498)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053372]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053372]|See cases [RCV000053372]
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: ASF1A   CEP85L   FAM184A   MAN1A1   MCM9   MIR548B   PLN  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_118509086)_(119604498_?)dup
NC_000006.11:g.(?_118830249)_(119925663_?)dup
NC_000006.10:g.(?_118936942)_(119967362_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh386118,509,086 - 119,604,498CLINVAR
GRCh376118,830,249 - 119,925,663CLINVAR
Build 366118,936,942 - 119,967,362CLINVAR
Cytogenetic Map66q22.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620309
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.