Genomic variant #0000019073

Individual ID 00019983
Chromosome 17
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41244952G>A
Reference -
DB-ID BRCA1_000058 See all 7 reported entries
dbSNP ID rs41286300
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 0.00103
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRCA1 NM_007294.3 -/- - c.2596C>T r.(?) p.(Arg866Cys)
BRCA1 NM_007297.3 -/- - c.2455C>T r.(?) p.(Arg819Cys)
BRCA1 NM_007298.3 -/- - c.787+1809C>T r.(=) p.(=)
BRCA1 NM_007299.3 -/- - c.787+1809C>T r.(=) p.(=)
BRCA1 NM_007300.3 -/- - c.2596C>T r.(?) p.(Arg866Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000629 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou