Genomic variant #0000043979

Individual ID 00022108
Chromosome 7
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.55240803C>T
Reference -
DB-ID EGFR_000090 See all 2 reported entries
dbSNP ID rs55669340
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00034
Allele Count 2
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EGFR NM_005228.3 ./. - c.2047C>T r.(=) p.(=)
EGFR NM_201282.1 ./. - c.*4581C>T r.(=) p.(=)
EGFR NM_201284.1 ./. - c.*2566C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007606 DNA SEQ-NG-I 1 - 46 Stevi Xera