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Variant : CV801513 (Single allele) Homo sapiens

Symbol: CV801513
Name: Single allele
Condition: Focal seizures [RCV001004039]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACOT8   ACTR5   ADA   ADIG   ARHGAP40   BLCAP   BPI   CCN5   CD40   CDH22   CHD6   CTNNBL1   CTSA   DBNDD2   DHX35   DLGAP4   DNTTIP1   DSN1   ELMO2   EMILIN3   EPPIN   EPPIN-WFDC6   EYA2   FAM83D   FITM2   GDAP1L1   GHRH   GTSF1L   HNF4A   IFT52   JPH2   KCNK15   KCNS1   KIAA1755   L3MBTL1   LBP   LPIN3   MAFB   MANBAL   MATN4   MMP9   MROH8   MYBL2   MYL9   NCOA3   NCOA5   NDRG3   NEURL2   NNAT   OCSTAMP   OSER1   PABPC1L   PCIF1   PI3   PIGT   PKIG   PLCG1   PLTP   PPP1R16B   PTPRT   R3HDML   RAB5IF   RALGAPB   RBL1   RBPJL   RIMS4   RPN2   RPRD1B   SAMHD1   SDC4   SEMG1   SEMG2   SERINC3   SGK2   SLA2   SLC12A5   SLC13A3   SLC2A10   SLC32A1   SLC35C2   SLPI   SNHG11   SNX21   SOGA1   SPATA25   SPINT3   SPINT4   SRC   SRSF6   STK4   SULF2   SYS1   TGIF2   TGIF2-RAB5IF   TGM2   TLDC2   TNNC2   TOMM34   TOP1   TOX2   TP53RK   TP53TG5   TTI1   TTPAL   UBE2C   VSTM2L   WFDC10A   WFDC10B   WFDC11   WFDC12   WFDC13   WFDC2   WFDC3   WFDC5   WFDC6   WFDC8   WFDC9   YWHAB   ZHX3   ZMYND8   ZNF334   ZNF335   ZNF840P   ZSWIM1   ZSWIM3  
Variant Type: deletion (SO:0000159)
Evidence: research
Human AssemblyChrPosition (strand)Source
GRCh372034,980,430 - 46,806,549CLINVAR
Cytogenetic Map2020q11.23-13.13CLINVAR
Trait Synonyms: Partial seizures

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 21405148
Created: 2020-03-10
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE


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