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Variant : CV73739 (GRCh38/hg38 2p21(chr2:41999414-42915744)x3) Homo sapiens

Symbol: CV73739
Name: GRCh38/hg38 2p21(chr2:41999414-42915744)x3
Condition: Cryptorchidism, unilateral or bilateral [RCV000052944]|See cases [RCV000052944]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: COX7A2L   EML4   EML4-AS1   HAAO   KCNG3   MTA3   OXER1   PKDCC   TRI-TAT2-1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_41999414)_(42915744_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38241,999,414 - 42,915,744CLINVAR
GRCh37242,226,554 - 43,142,884CLINVAR
Build 36242,080,058 - 42,996,388CLINVAR
Cytogenetic Map22p21CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 100 000|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: 8619913
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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