Genomic variant #0000017027

Individual ID 00016771
Chromosome 7
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.55240780G>A
Reference -
DB-ID EGFR_000006 See all 6 reported entries
dbSNP ID rs150423237
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00104
Allele Count 6
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EGFR NM_005228.3 ?/? - c.2024G>A r.(?) p.(Arg675Gln)
EGFR NM_201282.1 ?/? - c.*4558G>A r.(=) p.(=)
EGFR NM_201284.1 ?/? - c.*2543G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000462 DNA SEQ-NG-I 1 - 23 Despoina Kalfakakou