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Variant : CV72236 (GRCh38/hg38 13q13.3(chr13:37210304-39034199)x1) Homo sapiens

Symbol: CV72236
Name: GRCh38/hg38 13q13.3(chr13:37210304-39034199)x1
Condition: Nonsyndromic microcephaly [RCV000051376]|See cases [RCV000051376]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: FREM2   FREM2-AS1   LINC00366   LINC00437   LINC00547   LINC00571   LINC01048   POSTN   PROSER1   STOML3   TRPC4   UFM1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_37210304)_(39034199_?)del
Human AssemblyChrPosition (strand)Source
GRCh381337,210,304 - 39,034,199CLINVAR
GRCh371337,784,441 - 39,608,336CLINVAR
Build 361336,682,441 - 38,506,336CLINVAR
Cytogenetic Map1313q13.3CLINVAR
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
CRRD Object Information
CRRD ID: 8618395
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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