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Variant : CV164412 (GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1) Homo sapiens

Symbol: CV164412
Name: GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1
Condition: See cases [RCV000142725]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADPRH   ARHGAP31   ARHGAP31-AS1   ATG3   ATP6V1A   B4GALT4   B4GALT4-AS1   BOC   CCDC191   CCDC80   CD200R1   CD200R1L   CD200R1L-AS1   CD80   CFAP44   CFAP44-AS1   CFAP91   COX17   DRD3   GAP43   GRAMD1C   GSK3B   GTPBP8   IGSF11   IGSF11-AS1   LINC00901   LINC00903   LINC02024   LINC02042   LINC02044   LOC101926968   LOC105374060   LOC108004532   LOC110120631   LOC110121175   LOC110121187   LOC111255649   LOC112848343   LOC112848344   LSAMP   LSAMP-AS1   MIR4446   MIR4447   MIR4796   MIR568   MIR8076   MIR9900   NAA50   NEPRO   NR1I2   PLA1A   POGLUT1   POPDC2   QTRT2   SIDT1   SLC35A5   SNORD155   SPICE1   TEX55   TIGIT   TIMMDC1   TMEM39A   TUSC7   UPK1B   USF3   ZBTB20   ZBTB20-AS1   ZBTB20-AS3   ZBTB20-AS4   ZBTB20-AS5   ZDHHC23   ZNF80  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_112520553)_(120031022_?)del
NC_000003.11:g.(?_112239400)_(119749869_?)del
NC_000003.10:g.(?_113722090)_(121232559_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383112,520,553 - 120,031,022CLINVAR
GRCh373112,239,400 - 119,749,869CLINVAR
Build 363113,722,090 - 121,232,559CLINVAR
Cytogenetic Map33q13.2-13.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490323
Created: 2014-09-09
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.