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Variant : CV74022 (GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1) Homo sapiens

Symbol: CV74022
Name: GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053269]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053269]|See cases [RCV000053269]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AMDHD2   ATP6V0C   BICDL2   CEMP1   CLDN6   CLDN9   ELOB   ERVK13-1   FLYWCH1   FLYWCH2   HCFC1R1   IL32   KCTD5   KREMEN2   LINC00514   MEFV   MIR3178   MMP25   MMP25-AS1   OR1F1   PAQR4   PDPK1   PKMYT1   PRSS21   PRSS22   PRSS27   PRSS33   PRSS41   SNORA3C   SRRM2   SRRM2-AS1   TBC1D24   THOC6   TNFRSF12A   TRK-CTT2-5   TRK-CTT3-1   TRK-CTT4-1   TRK-CTT5-1   TRP-AGG1-1   TRP-AGG2-7   TRP-AGG2-8   TRP-CGG1-2   TRP-TGG3-3   TRP-TGG3-4   TRP-TGG3-5   TRR-CCG1-3   TRR-CCT3-1   TRR-CCT5-1   ZG16B   ZNF200   ZNF205   ZNF205-AS1   ZNF213   ZNF213-AS1   ZSCAN10  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_2494804)_(3246579_?)del
NC_000016.9:g.(?_2544805)_(3296579_?)del
NC_000016.8:g.(?_2484806)_(3236580_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38162,494,804 - 3,246,579CLINVAR
GRCh37162,544,805 - 3,296,579CLINVAR
Build 36162,484,806 - 3,236,580CLINVAR
Cytogenetic Map1616p13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620206
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.