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Variant : CV158451 (GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1) Homo sapiens

Symbol: CV158451
Name: GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1
Condition: See cases [RCV000137768]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 09/16/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADCY9   C16orf96   CDIP1   CORO7   CORO7-PAM16   CREBBP   DNAJA3   GLIS2   GLIS2-AS1   HMOX2   LINC01569   LINC02861   MGRN1   NMRAL1   PAM16   SRL   TFAP4   UBALD1   VASN  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_3820522)_(4668347_?)del
NC_000016.9:g.(?_3870523)_(4718348_?)del
NC_000016.8:g.(?_3810524)_(4658349_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38163,820,522 - 4,668,347CLINVAR
GRCh37163,870,523 - 4,718,348CLINVAR
Build 36163,810,524 - 4,658,349CLINVAR
Cytogenetic Map1616p13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485320
Created: 2014-09-09
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.