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Variant : CV72234 (GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1) Homo sapiens

Symbol: CV72234
Name: GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051374]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051374]|See cases [RCV000051374]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: B3GLCT   BRCA2   FRY   FRY-AS1   KL   LINC00423   LINC02343   LINC02344   N4BP2L1   N4BP2L2   N4BP2L2-IT2   PDS5B   RFC3   RXFP2   STARD13   STARD13-AS   ZAR1L  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_31164047)_(34428736_?)del
NC_000013.10:g.(?_31738184)_(35002873_?)del
NC_000013.9:g.(?_30636184)_(33900873_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381331,164,047 - 34,428,736CLINVAR
GRCh371331,738,184 - 35,002,873CLINVAR
Build 361330,636,184 - 33,900,873CLINVAR
Cytogenetic Map1313q12.3-13.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618393
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.