Genomic variant #0000006975

Individual ID 00016469
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.55238941G>A
Reference -
DB-ID EGFR_000004 See all 54 reported entries
dbSNP ID rs17290246
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 0.00956
Allele Count 55
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.1919+35G>A r.(=) p.(=)
EGFR NM_201282.1 ?/? - c.*2719G>A r.(=) p.(=)
EGFR NM_201284.1 ?/? - c.*704G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000191 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou