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Variant : CV820033 (NC_000009.11:g.(?_138645763)_(140729425_?)del) Homo sapiens

Symbol: CV820033
Name: NC_000009.11:g.(?_138645763)_(140729425_?)del
Condition: Kleefstra syndrome 1 [RCV001031921]
Clinical Significance: pathogenic
Last Evaluated: 05/10/2019
Review Status: criteria provided, single submitter
Related Genes: ABCA2   AGPAT2   AJM1   AL590627.1   ANAPC2   ARRDC1   C8G   C9orf139   C9orf163   CAMSAP1   CARD9   CCDC183   CLIC3   CYSRT1   DIPK1B   DNLZ   DPH7   DPP7   EDF1   EGFL7   EHMT1   ENTPD2   ENTPD8   ENTR1   EXD3   FAM166A   FBXW5   FUT7   GPSM1   GRIN1   INPP5E   KCNT1   LCN10   LCN12   LCN15   LCN6   LCN8   LCNL1   LHX3   LRRC26   MAMDC4   MAN1B1   MIR126   MRPL41   NACC2   NDOR1   NELFB   NOTCH1   NOXA1   NPDC1   NRARP   NSMF   PAXX   PHPT1   PMPCA   PNPLA7   PTGDS   QSOX2   RABL6   RNF208   RNF224   SAPCD2   SEC16A   SLC34A3   SNAPC4   SNHG7   SSNA1   STPG3   TMEM141   TMEM203   TMEM210   TMEM250   TOR4A   TPRN   TRAF2   TUBB4B   UAP1L1   UBAC1   ZMYND19  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.(?_138645763)_(140729425_?)del
Human AssemblyChrPosition (strand)Source
GRCh379138,645,763 - 140,729,425CLINVAR
Cytogenetic Map99q34.3CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 26898239
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-10-20
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.