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Variant : CV362979 (NM_005228.5(EGFR):c.1474A>G (p.Ser492Gly)) Homo sapiens

Symbol: CV362979
Name: NM_005228.5(EGFR):c.1474A>G (p.Ser492Gly)
Condition: Colorectal Neoplasms [RCV000429440]|Neoplasm of the large intestine [RCV000429440]
Clinical Significance: likely pathogenic
Last Evaluated: 12/26/2014
Review Status: no assertion criteria provided
Related Genes: EGFR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): LRG_304:g.146283A>G
NG_007726.3:g.146283A>G
NC_000007.14:g.55160314A>G
NC_000007.13:g.55228007A>G
NP_005219.2:p.Ser492Gly
NP_001333827.1:p.Ser492Gly
NP_958439.1:p.Ser492Gly
NP_958441.1:p.Ser492Gly
NP_001333828.1:p.Ser447Gly
NM_001346900.2:c.1315A>G
NM_001346897.2:c.1339A>G
NM_001346899.1:c.1339A>G
NM_001346898.2:c.1474A>G
NM_005228.5:c.1474A>G
NM_201282.2:c.1474A>G
NM_201284.2:c.1474A>G
NM_001346941.2:c.673A>G
NP_001333870.1:p.Ser225Gly
NP_001333829.1:p.Ser439Gly
NP_001333826.1:p.Ser447Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,160,314 - 55,160,314CLINVAR
GRCh37755,228,007 - 55,228,007CLINVAR
Cytogenetic Map77p11.2CLINVAR
Trait Synonyms: Colorectal Neoplasms; Large intestine tumor



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12839769
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.