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Variant : CV652630 (NC_000016.9:g.(?_3777699)_(4852592_?)del) Homo sapiens

Symbol: CV652630
Name: NC_000016.9:g.(?_3777699)_(4852592_?)del
Condition: Rubinstein-Taybi syndrome [RCV000813975]
Clinical Significance: pathogenic
Last Evaluated: 08/25/2018
Review Status: criteria provided, single submitter
Related Genes: ADCY9   ANKS3   C16orf71   C16orf96   CDIP1   CORO7   CORO7-PAM16   CREBBP   DNAJA3   GLIS2   GLIS2-AS1   HMOX2   LINC01569   LINC02861   MGRN1   MIR6769A   NMRAL1   NUDT16L1   PAM16   ROGDI   SEPTIN12   SMIM22   SRL   TFAP4   UBALD1   VASN   ZNF500  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.9:g.(?_3777699)_(4852592_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38163,727,698 - 4,802,591CLINVAR
GRCh37163,777,699 - 4,852,592CLINVAR
Cytogenetic Map1616p13.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14701120
Created: 2019-09-06
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.