Genomic variant #0000036366

Individual ID 00017995
Chromosome 7
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.55214295G>A
Reference -
DB-ID EGFR_000012 See all 9 reported entries
dbSNP ID rs181831531
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 0.00156
Allele Count 9
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.425-4G>A r.spl? p.?
EGFR NM_201282.1 -?/-? - c.425-4G>A r.spl? p.?
EGFR NM_201283.1 -?/-? - c.425-4G>A r.spl? p.?
EGFR NM_201284.1 -?/-? - c.425-4G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002248 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou