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Variant : CV575775 (NM_005228.5(EGFR):c.2800C>T (p.Pro934Ser)) Homo sapiens

Symbol: CV575775
Name: NM_005228.5(EGFR):c.2800C>T (p.Pro934Ser)
Condition: Hereditary cancer [RCV000709016]
Clinical Significance: uncertain significance
Last Evaluated: 07/02/2018
Review Status: criteria provided, single submitter
Related Genes: EGFR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_304:g.184784C>T
NG_007726.3:g.184784C>T
NC_000007.14:g.55198815C>T
NC_000007.13:g.55266508C>T
NP_005219.2:p.Pro934Ser
NM_001346941.2:c.1999C>T
NM_001346900.2:c.2641C>T
NM_001346897.2:c.2665C>T
NM_001346899.1:c.2665C>T
NM_001346898.2:c.2800C>T
NM_005228.5:c.2800C>T
NP_001333870.1:p.Pro667Ser
NP_001333829.1:p.Pro881Ser
NP_001333826.1:p.Pro889Ser
NP_001333828.1:p.Pro889Ser
NP_001333827.1:p.Pro934Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,198,815 - 55,198,815CLINVAR
GRCh37755,266,508 - 55,266,508CLINVAR
Cytogenetic Map77p11.2CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13820249
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.