Genomic variant #0000006803

Individual ID 00021137
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.41243725T>C
Reference -
DB-ID BRCA1_000047 See all 2 reported entries
dbSNP ID rs80357280
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 0.0003
Allele Count 2
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.3823A>G r.(?) p.(Ile1275Val)
BRCA1 NM_007297.3 -/- - c.3682A>G r.(?) p.(Ile1228Val)
BRCA1 NM_007298.3 -/- - c.788-676A>G r.(=) p.(=)
BRCA1 NM_007299.3 -/- - c.788-676A>G r.(=) p.(=)
BRCA1 NM_007300.3 -/- - c.3823A>G r.(?) p.(Ile1275Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000186 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou