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Variant : CV160611 (GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1) Homo sapiens

Symbol: CV160611
Name: GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1
Condition: See cases [RCV000139656]
Clinical Significance: pathogenic
Last Evaluated: 06/18/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADGRV1   ARRDC3   ARRDC3-AS1   ARSK   CAMK4   CAST   CCNH   CETN3   CHD1   COX7C   EFNA5   ELL2   ERAP1   ERAP2   FAM172A   FAM174A   FAM81B   FBXL17   FER   GIN1   GLRX   GPR150   KIAA0825   LINC00461   LINC00491   LINC00492   LINC01023   LINC01339   LINC01340   LINC01554   LINC01846   LINC01848   LINC01949   LINC01950   LINC02059   LINC02060   LINC02062   LINC02113   LINC02115   LINC02144   LINC02234   LINC02488   LIX1   LIX1-AS1   LNPEP   LUCAT1   LYSMD3   MACIR   MAN2A1   MBLAC2   MCTP1   MEF2C   MEF2C-AS1   MEF2C-AS2   MIR2277   MIR3660   MIR4280   MIR548F3   MIR548P   MIR583   MIR9-2   NR2F1   NR2F1-AS1   NUDT12   PAM   PCSK1   PJA2   POLR3G   POU5F2   PPIP5K2   RASA1   RFESD   RGMB   RGMB-AS1   RHOBTB3   RIOK2   SLC25A46   SLCO4C1   SLCO6A1   SLF1   SNORD138   SPATA9   ST8SIA4   TMEM161B   TMEM161B-AS1   TMEM232   TSLP   TTC37   WDR36  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_84603580)_(111435081_?)del
NC_000005.9:g.(?_83899398)_(110770779_?)del
NC_000005.8:g.(?_83935154)_(110798678_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38584,603,580 - 111,435,081CLINVAR
GRCh37583,899,398 - 110,770,779CLINVAR
Build 36583,935,154 - 110,798,678CLINVAR
Cytogenetic Map55q14.3-22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9487187
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.