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Variant : CV42034 (GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3) Homo sapiens

Symbol: CV42034
Name: GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051234]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051234]|See cases [RCV000051234]
Clinical Significance: uncertain significance
Last Evaluated: 07/22/2013
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: C1QTNF9   C1QTNF9B   LINC00327   LINC00566   MIPEP   MIR2276   PCOTH   SACS   SACS-AS1   SGCG   SPATA13   SPATA13-AS1   TNFRSF19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.10:g.(?_23566962)_(24910743_?)dup
NC_000013.9:g.(?_22464962)_(23808743_?)dup
NC_000013.11:g.(?_22992823)_(24336605_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381322,992,823 - 24,336,605CLINVAR
GRCh371323,566,962 - 24,910,743CLINVAR
Build 361322,464,962 - 23,808,743CLINVAR
Cytogenetic Map1313q12.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618271
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.