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Variant : CV164936 (GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1) Homo sapiens

Symbol: CV164936
Name: GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1
Condition: See cases [RCV000143249]
Clinical Significance: pathogenic
Last Evaluated: 12/17/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: APC   ARSK   CAMK4   CAST   CHD1   DCP2   EFNA5   ELL2   EPB41L4A   EPB41L4A-AS1   EPB41L4A-DT   ERAP1   ERAP2   FAM172A   FAM174A   FAM81B   FBXL17   FER   GIN1   GLRX   GPR150   KIAA0825   LINC00491   LINC00492   LINC01023   LINC01340   LINC01554   LINC01846   LINC01848   LINC01950   LINC02062   LINC02113   LINC02115   LINC02200   LINC02234   LIX1   LIX1-AS1   LNPEP   MACIR   MAN2A1   MCC   MCTP1   MIR2277   MIR548F3   MIR548P   MIR583   NR2F1   NR2F1-AS1   NREP   NREP-AS1   NUDT12   PAM   PCSK1   PJA2   POU5F2   PPIP5K2   REEP5   RFESD   RGMB   RGMB-AS1   RHOBTB3   RIOK2   SLC25A46   SLCO4C1   SLCO6A1   SLF1   SNORA13   SPATA9   SRP19   ST8SIA4   STARD4   STARD4-AS1   TMEM232   TSLP   TTC37   WDR36  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_93193104)_(113287795_?)del
NC_000005.9:g.(?_92528810)_(112623492_?)del
NC_000005.8:g.(?_92554566)_(112651391_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38593,193,104 - 113,287,795CLINVAR
GRCh37592,528,810 - 112,623,492CLINVAR
Build 36592,554,566 - 112,651,391CLINVAR
Cytogenetic Map55q15-22.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490847
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.