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Variant : CV158378 (GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1) Homo sapiens

Symbol: CV158378
Name: GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1
Condition: See cases [RCV000137695]
Clinical Significance: pathogenic
Last Evaluated: 01/13/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BMP2   CASC20   CDS2   CHGB   CRLS1   FERMT1   GPCPD1   LINC00654   LINC00658   LINC01713   LINC01729   LOC643406   LRRN4   MCM8   MCM8-AS1   PCNA   PCNA-AS1   PRND   PRNP   PRNT   PROKR2   RASSF2   SHLD1   SLC23A2   TMEM230   TRMT6  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_4343033)_(6911730_?)del
NC_000020.10:g.(?_4323680)_(6892377_?)del
NC_000020.9:g.(?_4271680)_(6840377_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38204,343,033 - 6,911,730CLINVAR
GRCh37204,323,680 - 6,892,377CLINVAR
Build 36204,271,680 - 6,840,377CLINVAR
Cytogenetic Map2020p13-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485247
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.