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Variant : CV73736 (GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1) Homo sapiens

Symbol: CV73736
Name: GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1
Condition: Pectus excavatum [RCV000052941]|See cases [RCV000052941]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARRDC1   ARRDC1-AS1   CACNA1B   CYSRT1   DPH7   EHMT1   ENTPD8   EXD3   FAM166A   MIR602   MIR7114   MRPL41   NDOR1   NELFB   NOXA1   NRARP   NSMF   PNPLA7   RNF208   RNF224   SLC34A3   STPG3   STPG3-AS1   TOR4A   TUBB4B   ZMYND19  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_137215877)_(138138735_?)del
Human AssemblyChrPosition (strand)Source
GRCh389137,215,877 - 138,138,735CLINVAR
GRCh379140,110,329 - 141,033,187CLINVAR
Build 369139,230,150 - 140,153,008CLINVAR
Cytogenetic Map99q34.3CLINVAR
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: 8619910
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.