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Variant : CV158608 (GRCh38/hg38 21q22.3(chr21:44502542-44720113)x1) Homo sapiens

Symbol: CV158608
Name: GRCh38/hg38 21q22.3(chr21:44502542-44720113)x1
Condition: See cases [RCV000137922]
Clinical Significance: uncertain significance
Last Evaluated: 11/04/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: KRTAP10-1   KRTAP10-10   KRTAP10-11   KRTAP10-12   KRTAP10-2   KRTAP10-3   KRTAP10-4   KRTAP10-5   KRTAP10-6   KRTAP10-7   KRTAP10-8   KRTAP10-9   KRTAP12-1   KRTAP12-2   KRTAP12-3   KRTAP12-4   TSPEAR   TSPEAR-AS1   TSPEAR-AS2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_44502542)_(44720113_?)del
NW_004775435.1:g.(?_5865)_(223434_?)del
NC_000021.7:g.(?_44746853)_(44964456_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,502,542 - 44,720,113CLINVAR
Build 362144,746,853 - 44,964,456CLINVAR
Cytogenetic Map2121q22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485473
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
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.