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Variant : CV74029 (GRCh38/hg38 12p13.33(chr12:77187-356623)x1) Homo sapiens

Symbol: CV74029
Name: GRCh38/hg38 12p13.33(chr12:77187-356623)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053276]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053276]|See cases [RCV000053276]
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: IQSEC3   KDM5A   SLC6A12   SLC6A13  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_77187)_(356623_?)del
NC_000012.11:g.(?_282465)_(465789_?)del
NC_000012.10:g.(?_56614)_(336050_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381277,187 - 356,623CLINVAR
GRCh3712282,465 - 465,789CLINVAR
Build 361256,614 - 336,050CLINVAR
Cytogenetic Map1212p13.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620213
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.