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Variant : CV158548 (GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1) Homo sapiens

Symbol: CV158548
Name: GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1
Condition: See cases [RCV000137863]
Clinical Significance: likely pathogenic
Last Evaluated: 01/13/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABRAXAS1   BMP3   CFAP299   COPS4   COQ2   ENOPH1   GPAT3   HELQ   HNRNPD   HNRNPDL   HPSE   LIN54   LINC00575   MIR575   MRPS18C   PLAC8   PRKG2   RASGEF1B   SCD5   SEC31A   SNORD143   SNORD144   THAP9   THAP9-AS1   TMEM150C  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_80908016)_(84329610_?)del
NC_000004.11:g.(?_81829170)_(85250763_?)del
NC_000004.10:g.(?_82048194)_(85469787_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38480,908,016 - 84,329,610CLINVAR
GRCh37481,829,170 - 85,250,763CLINVAR
Build 36482,048,194 - 85,469,787CLINVAR
Cytogenetic Map44q21.21-21.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485414
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.