Genomic variant #0000039420

Individual ID 00020799
Chromosome 17
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41197718_41197730del
Reference -
DB-ID BRCA1_000116 See all 2 reported entries
dbSNP ID -
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.5557_5569del r.(?) p.(Tyr1853Argfs*65)
BRCA1 NM_007297.3 +/+ - c.5416_5428del r.(?) p.(Tyr1806Argfs*65)
BRCA1 NM_007298.3 +/+ - c.2245_2257del r.(?) p.(Tyr749Argfs*65)
BRCA1 NM_007299.3 +/+ - c.*71_*83del r.(=) p.(=)
BRCA1 NM_007300.3 +/+ - c.5620_5632del r.(?) p.(Tyr1874Argfs*65)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006740 DNA SEQ 0 BRCA1 1 Despoina Kalfakakou