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Variant : CV72276 (GRCh38/hg38 13q31.3-32.1(chr13:93571649-97428965)x1) Homo sapiens

Symbol: CV72276
Name: GRCh38/hg38 13q31.3-32.1(chr13:93571649-97428965)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051419]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051419]|See cases [RCV000051419]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCC4   CLDN10   CLDN10-AS1   DCT   DNAJC3   DNAJC3-DT   DZIP1   GPC6   GPC6-AS1   GPC6-AS2   GPR180   HS6ST3   LINC00359   LINC00456   LINC00557   MBNL2   MIR4501   OXGR1   SNORD13G   SOX21   SOX21-AS1   TGDS   TRF-GAA1-5   UGGT2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_93571649)_(97428965_?)del
NC_000013.10:g.(?_94223902)_(98081219_?)del
NC_000013.9:g.(?_93021903)_(96879220_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381393,571,649 - 97,428,965CLINVAR
GRCh371394,223,902 - 98,081,219CLINVAR
Build 361393,021,903 - 96,879,220CLINVAR
Cytogenetic Map1313q31.3-32.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618436
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.