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Variant : CV575762 (NM_005228.5(EGFR):c.345T>A (p.Asn115Lys)) Homo sapiens

Symbol: CV575762
Name: NM_005228.5(EGFR):c.345T>A (p.Asn115Lys)
Condition: Hereditary cancer [RCV000709001]
Clinical Significance: uncertain significance
Last Evaluated: 07/02/2018
Review Status: criteria provided, single submitter
Related Genes: EGFR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_304:g.129378T>A
NG_007726.3:g.129378T>A
NC_000007.14:g.55143409T>A
NC_000007.13:g.55211102T>A
NP_005219.2:p.Asn115Lys
NM_001346897.2:c.345T>A
NM_001346899.1:c.345T>A
NM_005228.5:c.345T>A
NM_201282.2:c.345T>A
NP_958441.1:p.Asn115Lys
NP_001333829.1:p.Asn62Lys
NM_001346900.2:c.186T>A
NM_001346898.2:c.345T>A
NM_201283.1:c.345T>A
NM_201284.2:c.345T>A
NM_001346941.2:c.89-12421T>A
NP_001333826.1:p.Asn115Lys
NP_001333827.1:p.Asn115Lys
NP_001333828.1:p.Asn115Lys
NP_958439.1:p.Asn115Lys
NP_958440.1:p.Asn115Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,143,409 - 55,143,409CLINVAR
GRCh37755,211,102 - 55,211,102CLINVAR
Cytogenetic Map77p11.2CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13820202
Created: 2018-11-06
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.