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Variant : CV311739 (NM_016341.4(PLCE1):c.-226del) Homo sapiens

Symbol: CV311739
Name: NM_016341.4(PLCE1):c.-226del
Condition: Nephrotic syndrome [RCV000400159]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: PLCE1  
Variant Type: deletion (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001288989.2:c.-226del
NG_015799.1:g.41833del
NC_000010.11:g.94030821del
NC_000010.10:g.95790578del
NM_016341.3:c.-226delC
NM_016341.4:c.-226del
Position
Human AssemblyChrPosition (strand)Source
GRCh381094,030,820 - 94,030,820CLINVAR
GRCh371095,790,577 - 95,790,577CLINVAR
Cytogenetic Map1010q23.33CLINVAR
Trait Synonyms: Nephrosis



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11663866
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-10-15
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.