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Variant : CV74411 (GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3) Homo sapiens

Symbol: CV74411
Name: GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3
Condition: Pectus excavatum [RCV000053684]|See cases [RCV000053684]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACSS3   ALX1   CCDC59   LIN7A   LINC01490   LINC02424   LINC02426   LINC02820   LRRIQ1   METTL25   MIR1252   MIR4699   MIR617   MIR618   MYF5   MYF6   NAV3   OTOGL   PAWR   PPFIA2   PPFIA2-AS1   PPP1R12A   PPP1R12A-AS1   PTPRQ   SLC6A15   SYT1   TMTC2   TSPAN19  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_77564757)_(85370822_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381277,564,757 - 85,370,822CLINVAR
GRCh371277,958,537 - 85,764,600CLINVAR
Build 361276,482,668 - 84,288,731CLINVAR
Cytogenetic Map1212q21.2-21.31CLINVAR
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: 8620602
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.