Genomic variant #0000018531

Individual ID 00016851
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.55210990C>G
Reference -
DB-ID EGFR_000013 See all 11 reported entries
dbSNP ID rs138872748
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 0.00191
Allele Count 11
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.241-8C>G r.(=) p.(=)
EGFR NM_201282.1 -?/-? - c.241-8C>G r.(=) p.(=)
EGFR NM_201283.1 -?/-? - c.241-8C>G r.(=) p.(=)
EGFR NM_201284.1 -?/-? - c.241-8C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000582 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou