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Variant : CV363086 (NM_005228.5(EGFR):c.323G>A (p.Arg108Lys)) Homo sapiens

Symbol: CV363086
Name: NM_005228.5(EGFR):c.323G>A (p.Arg108Lys)
Condition: Neoplasm of brain [RCV000432019]
Clinical Significance: likely pathogenic
Last Evaluated: 12/26/2014
Review Status: no assertion criteria provided
Related Genes: EGFR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: literature only
HGVS Name(s): LRG_304:g.129356G>A
NG_007726.3:g.129356G>A
NC_000007.14:g.55143387G>A
NC_000007.13:g.55211080G>A
NP_005219.2:p.Arg108Lys
NM_001346900.2:c.164G>A
NM_001346897.2:c.323G>A
NM_001346898.2:c.323G>A
NM_001346899.1:c.323G>A
NM_005228.5:c.323G>A
NM_201282.2:c.323G>A
NM_201283.1:c.323G>A
NM_201284.2:c.323G>A
NM_001346941.2:c.89-12443G>A
NP_001333826.1:p.Arg108Lys
NP_001333827.1:p.Arg108Lys
NP_001333828.1:p.Arg108Lys
NP_958439.1:p.Arg108Lys
NP_958440.1:p.Arg108Lys
NP_958441.1:p.Arg108Lys
NP_001333829.1:p.Arg55Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,143,387 - 55,143,387CLINVAR
GRCh37755,211,080 - 55,211,080CLINVAR
Cytogenetic Map77p11.2CLINVAR
Trait Synonyms: Brain neoplasm; Brain tumor; Brain tumour



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12841126
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.