Genomic variant #0000040408

Individual ID 00021040
Chromosome 17
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41256250_41256251insT
Reference -
DB-ID BRCA1_000013 See all 5 reported entries
dbSNP ID rs80357604
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 0.00044
Allele Count 3
Allele Number 6768
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRCA1 NM_007294.3 +/+ - c.329_330insA r.(?) p.(Glu111Glyfs*3)
BRCA1 NM_007297.3 +/+ - c.188_189insA r.(?) p.(Glu64Glyfs*3)
BRCA1 NM_007298.3 +/+ - c.329_330insA r.(?) p.(Glu111Glyfs*3)
BRCA1 NM_007299.3 +/+ - c.329_330insA r.(?) p.(Glu111Glyfs*3)
BRCA1 NM_007300.3 +/+ - c.329_330insA r.(?) p.(Glu111Glyfs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007169 DNA SEQ 0 BRCA1 1 Despoina Kalfakakou