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Variant : CV252899 (NM_005228.5(EGFR):c.474C>T (p.Asn158=)) Homo sapiens

Symbol: CV252899
Name: NM_005228.5(EGFR):c.474C>T (p.Asn158=)
Condition: Lung cancer [RCV000324154]|not specified [RCV000253696]
Clinical Significance: benign|likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: EGFR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_304t1:c.474C>T
LRG_304:g.132624C>T
NG_007726.3:g.132624C>T
NC_000007.14:g.55146655C>T
NC_000007.13:g.55214348C>T
NP_005219.2:p.Asn158=
NM_005228.3:c.474C>T
NP_001333827.1:p.Asn158=
NP_958439.1:p.Asn158=
NP_958440.1:p.Asn158=
NP_958441.1:p.Asn158=
NM_001346898.2:c.474C>T
NM_001346900.2:c.315C>T
NM_001346897.2:c.424+3167C>T
NM_001346899.1:c.424+3167C>T
NM_005228.5:c.474C>T
NM_201282.2:c.474C>T
NM_201283.1:c.474C>T
NM_201284.2:c.474C>T
NM_001346941.2:c.89-9175C>T
NP_001333829.1:p.Asn105=
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,146,655 - 55,146,655CLINVAR
GRCh37755,214,348 - 55,214,348CLINVAR
Cytogenetic Map77p11.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; Lung cancer, somatic



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11551930
Created: 2016-10-11
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.