Genomic variant #0000040462

Individual ID 00021247
Chromosome 17
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41243789_41243792del
Reference -
DB-ID BRCA1_000003 See all 17 reported entries
dbSNP ID rs80357868
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 0.00015
Allele Count 1
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.3752_3755del r.(?) p.(Ser1253Argfs*10)
BRCA1 NM_007297.3 +/+ - c.3615_3618del r.(?) p.(Ser1206Argfs*10)
BRCA1 NM_007298.3 +/+ - c.788-743_788-740del r.(=) p.(=)
BRCA1 NM_007299.3 +/+ - c.788-743_788-740del r.(=) p.(=)
BRCA1 NM_007300.3 +/+ - c.3756_3759del r.(?) p.(Ser1253Argfs*10)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007281 DNA SEQ 1 BRCA1 1 Despoina Kalfakakou