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Variant : CV74972 (GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1) Homo sapiens

Symbol: CV74972
Name: GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1
Condition: Global developmental delay [RCV000054259]|See cases [RCV000054259]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CA1   CA13   CA2   CA3   CA3-AS1   CASC9   CHMP4C   CRISPLD1   E2F5   ELOC   FABP12   FABP4   FABP5   FABP9   GDAP1   HEY1   HNF4G   IL7   IMPA1   JPH1   LINC01111   LINC01419   LINC01607   LINC01617   LINC02605   LINC02839   LRRCC1   LY96   MIR12123   MIR2052   MIR2052HG   MIR3149   MIR5681A   MIR5681B   MIR5708   MRPS28   PAG1   PEX2   PI15   PKIA   PKIA-AS1   PMP2   RALYL   RBIS   SLC10A5   SNX16   STMN2   TMEM70   TPD52   ZBTB10   ZC2HC1A   ZFAND1   ZFHX4   ZFHX4-AS1   ZNF704  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_73879385)_(85611466_?)del
NC_000008.10:g.(?_74791620)_(86523695_?)del
NC_000008.9:g.(?_74954174)_(86710947_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38873,879,385 - 85,611,466CLINVAR
GRCh37874,791,620 - 86,523,695CLINVAR
Build 36874,954,174 - 86,710,947CLINVAR
Cytogenetic Map88q21.11-21.2CLINVAR
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: 8621166
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.