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Variant : CV552396 (46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn) Homo sapiens

Symbol: CV552396
Name: 46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn
Condition: Coffin-Siris syndrome 1 [RCV000714957]
Clinical Significance: pathogenic
Last Evaluated: 01/01/2018
Review Status: no assertion criteria provided
Related Genes: ACAT2   AFDN   AGPAT4   AIRN   AKAP12   ARID1B   ARMT1   C6orf118   C6orf120   C6orf99   CCDC170   CCR6   CEP43   CLDN20   CNKSR3   DACT2   DLL1   DYNLT1   ERMARD   ESR1   EZR   FAM120B   FBXO5   FNDC1   FRMD1   GPR31   GTF2H5   IGF2R   IPCEF1   KIF25   LINC02487   LPA   MAP3K4   MAS1   MPC1   MRPL18   MTRF1L   MYCT1   NOX3   OPRM1   PACRG   PDCD2   PDE10A   PHF10   PLG   PNLDC1   PRKN   PRR18   PSMB1   QKI   RGS17   RMND1   RNASET2   RPS6KA2   RSPH3   SCAF8   SDIM1   SERAC1   SFT2D1   SLC22A1   SLC22A2   SLC22A3   SMOC2   SNX9   SOD2   SYNE1   SYNE1-AS1   SYNJ2   SYTL3   TAGAP   TBP   TBXT   TCP1   TCTE3   TFB1M   THBS2   TIAM2   TMEM181   TMEM242   TTLL2   TULP4   UNC93A   VIP   WDR27   WTAP   ZBTB2   ZDHHC14  
Variant Type: complex (SO:0001784)
Evidence: research
Human AssemblyChrPosition (strand)Source
GRCh376151,443,333 - 171,115,067CLINVAR
Cytogenetic Map66q25.1-27CLINVAR
Trait Synonyms: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features; Mental retardation, autosomal dominant 12

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13827725
Created: 2018-12-06
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE


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