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Variant : CV820106 (NC_000009.12:g.(?_137139467)_(137834973_?)del) Homo sapiens

Symbol: CV820106
Name: NC_000009.12:g.(?_137139467)_(137834973_?)del
Condition: Kleefstra syndrome 1 [RCV001031572]
Clinical Significance: pathogenic
Last Evaluated: 09/30/2019
Review Status: criteria provided, single submitter
Related Genes: AL590627.1   ANAPC2   ARRDC1   CYSRT1   DPH7   EHMT1   ENTPD8   EXD3   FAM166A   GRIN1   LRRC26   MRPL41   NDOR1   NELFB   NOXA1   NRARP   NSMF   PNPLA7   RNF208   RNF224   SLC34A3   SSNA1   STPG3   TMEM203   TMEM210   TOR4A   TPRN   TUBB4B   ZMYND19  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_137139467)_(137834973_?)del
NC_000009.11:g.(?_140033919)_(140729425_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh379140,033,919 - 140,729,425CLINVAR
Cytogenetic Map99q34.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 26898118
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-10-15
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.