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Variant : CV74303 (GRCh38/hg38 10q24.31-24.32(chr10:101120347-101831908)x3) Homo sapiens

Symbol: CV74303
Name: GRCh38/hg38 10q24.31-24.32(chr10:101120347-101831908)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053565]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053565]|See cases [RCV000053565]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BTRC   DPCD   FBXW4   FGF8   KCNIP2   KCNIP2-AS1   LBX1   LBX1-AS1   LINC01514   LINC02681   MIR3158-1   MIR3158-2   NPM3   OGA   POLL   TLX1   TLX1NB  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_101120347)_(101831908_?)dup
NC_000010.10:g.(?_102880104)_(103591665_?)dup
NC_000010.9:g.(?_102870094)_(103581655_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3810101,120,347 - 101,831,908CLINVAR
GRCh3710102,880,104 - 103,591,665CLINVAR
Build 3610102,870,094 - 103,581,655CLINVAR
Cytogenetic Map1010q24.31-24.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620491
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
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.