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Variant : CV74259 (GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1) Homo sapiens

Symbol: CV74259
Name: GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1
Condition: Coloboma [RCV000053516]|Congenital ocular coloboma [RCV000053516]|See cases [RCV000053516]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADGRV1   ARRDC3   ARRDC3-AS1   ARSK   CAST   CETN3   CHD1   ELL2   ERAP1   ERAP2   FAM172A   FAM174A   FAM81B   GIN1   GLRX   GPR150   KIAA0825   LINC00491   LINC00492   LINC01339   LINC01340   LINC01554   LINC01846   LINC02062   LINC02113   LINC02115   LINC02234   LIX1   LIX1-AS1   LNPEP   LUCAT1   LYSMD3   MACIR   MBLAC2   MCTP1   MEF2C-AS1   MIR2277   MIR3660   MIR548P   MIR583   NR2F1   NR2F1-AS1   NUDT12   PAM   PCSK1   POLR3G   POU5F2   PPIP5K2   RFESD   RGMB   RGMB-AS1   RHOBTB3   RIOK2   SLCO4C1   SLCO6A1   SLF1   SPATA9   ST8SIA4   TTC37  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_89081352)_(104687248_?)del
Human AssemblyChrPosition (strand)Source
GRCh38589,081,352 - 104,687,248CLINVAR
GRCh37588,377,169 - 104,022,949CLINVAR
Build 36588,412,925 - 104,050,848CLINVAR
Cytogenetic Map55q14.3-21.2CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8620445
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


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