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Variant : CV614002 (GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)) Homo sapiens

Symbol: CV614002
Name: GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)
Condition: not provided [RCV000767706]
Clinical Significance: likely pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ALDH1L1   ALG1L   C3orf22   CFAP100   CHCHD6   CHST13   HEG1   ITGB5   KALRN   KLF15   MUC13   OSBPL11   ROPN1B   SLC12A8   SLC41A3   SNX4   TXNRD3   UMPS   UROC1   ZNF148   ZXDC  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh373124,369,671 - 126,423,192CLINVAR
Cytogenetic Map33q21.2-21.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14399667
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-02-20
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.