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Variant : CV178888 (NM_003755.5(EIF3G):c.947+103C>T) Homo sapiens

Symbol: CV178888
Name: NM_003755.5(EIF3G):c.947+103C>T
Condition: Cataplexy and narcolepsy [RCV000161132]|Type 1 narcolepsy [RCV000161132]
Clinical Significance: association
Last Evaluated: 12/10/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: EIF3G   P2RY11  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant|intron variant
Evidence: case-control
HGVS Name(s): NC_000019.10:g.10115376G>A
NC_000019.9:g.10226052G>A
NG_047007.1:g.8856G>A
NM_003755.5:c.947+103C>T
NG_051197.1:g.9549C>T
NM_002566.4:c.*638G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381910,115,376 - 10,115,376CLINVAR
GRCh371910,226,052 - 10,226,052CLINVAR
Cytogenetic Map1919p13.2CLINVAR



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9831526
Created: 2015-03-10
Species: Homo sapiens
Last Modified: 2019-11-05
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.