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Variant : CV71772 (GRCh38/hg38 2q37.1(chr2:233420162-233761780)x3) Homo sapiens

Symbol: CV71772
Name: GRCh38/hg38 2q37.1(chr2:233420162-233761780)x3
Condition: Cleft upper lip [RCV000050828]|See cases [RCV000050828]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: DGKD   DNAJB3   UGT1A   UGT1A1   UGT1A10   UGT1A3   UGT1A4   UGT1A5   UGT1A6   UGT1A7   UGT1A8   UGT1A9   USP40  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_233420162)_(233761780_?)dup
NC_000002.11:g.(?_234229606)_(234670426_?)dup
NC_000002.10:g.(?_233894345)_(234335165_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382233,420,162 - 233,761,780 (+)CLINVAR
GRCh372234,229,606 - 234,670,426CLINVAR
Build 362233,894,345 - 234,335,165CLINVAR
Cytogenetic Map22q37.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617900
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.