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Variant : CV918511 (NM_016341.4(PLCE1):c.756G>T (p.Gln252His)) Homo sapiens

Symbol: CV918511
Name: NM_016341.4(PLCE1):c.756G>T (p.Gln252His)
Condition: Glomerulonephritis (disease) [RCV001195710]
Clinical Significance: uncertain significance
Last Evaluated: 08/07/2019
Review Status: criteria provided, single submitter
Related Genes: PLCE1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001288989.2:c.756G>T
NM_016341.4:c.756G>T
NG_015799.1:g.42814G>T
NC_000010.11:g.94031802G>T
NC_000010.10:g.95791559G>T
NM_016341.3:c.756G>T
NP_001275918.1:p.Gln252His
NP_057425.3:p.Gln252His
Position
Human AssemblyChrPosition (strand)Source
GRCh381094,031,802 - 94,031,802CLINVAR
GRCh371095,791,559 - 95,791,559CLINVAR
Cytogenetic Map1010q23.33CLINVAR
Trait Synonyms: Glomerular nephritis; Glomerulonephritis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 38459424
Created: 2020-08-11
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.