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Variant : CV74137 (GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1) Homo sapiens

Symbol: CV74137
Name: GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1
Condition: See cases [RCV000053384]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABR   AC005696.1   AC015921.1   AC055839.2   AC087392.1   AC087500.1   AC090282.1   AC091153.3   AC099684.1   AC141424.1   AL450226.1   ALOX15   ANKFY1   ARRB2   ASPA   ATP2A3   BHLHA9   C17orf107   C17orf97   C1QBP   CAMKK1   CAMTA2   CCDC92B   CHRNE   CLUH   CRK   CTNS   CXCL16   CYB5D2   DERL2   DHX33   DHX33-DT   DPH1   EMC6   ENO3   GEMIN4   GGT6   GLOD4   GLTPD2   GP1BA   HASPIN   HIC1   INCA1   INPP5K   ITGAE   KIF1C   KIF1C-AS1   LINC01975   LINC01996   LOC284009   MED11   METTL16   MINK1   MIR1253   MIR132   MIR212   MIR22   MIR22HG   MIR3183   MIR6776   MIR6864   MIR6865   MIS12   MNT   MRM3   MYBBP1A   MYO1C   NCBP3   NLRP1   NUP88   NXN   OR1A1   OR1A2   OR1D2   OR1D4   OR1D5   OR1E1   OR1E2   OR1E3   OR1G1   OR3A1   OR3A2   OR3A3   OVCA2   P2RX1   P2RX5   P2RX5-TAX1BP3   PAFAH1B1   PELP1   PFN1   PITPNA   PITPNA-AS1   PLD2   PRPF8   PSMB6   RABEP1   RAP1GAP2   RFLNB   RILP   RNF167   RPA1   RPAIN   RPH3AL   RTN4RL1   SCARF1   SCIMP   SERPINF1   SERPINF2   SGSM2   SHPK   SLC25A11   SLC43A2   SLC52A1   SMG6   SMTNL2   SMYD4   SNORD91A   SNORD91B   SPAG7   SPATA22   SPNS2   SPNS3   SRR   TAX1BP3   TIMM22   TLCD2   TLCD3A   TM4SF5   TRARG1   TRPV1   TRPV3   TSR1   UBE2G1   USP6   VMO1   VPS53   WDR81   YWHAE   ZFP3   ZMYND15   ZNF232   ZNF232-AS1   ZNF594   ZZEF1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_193307)_(5652222_?)del
NC_000017.10:g.(?_45835)_(5555542_?)del
NC_000017.9:g.(?_43098)_(5496266_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3817193,307 - 5,652,222CLINVAR
GRCh371745,835 - 5,555,542CLINVAR
Build 361743,098 - 5,496,266CLINVAR
Cytogenetic Map1717p13.3-13.2CLINVAR
Prevalence: classic lissencephaly is rare. birth prevalence is estimated to range from 11.7 per million births to 40 per million births [personal communication with metropolitan atlanta congenital defects program personnel, national center on birth defects and develo



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620321
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-30
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.