Genomic variant #0000029519

Individual ID 00020954
Chromosome 17
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.41243680T>C
Reference -
DB-ID BRCA1_000106 See all 4 reported entries
dbSNP ID rs80357254
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 0.00058
Allele Count 4
Allele Number 6936
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRCA1 NM_007294.3 ?/? - c.3868A>G r.(?) p.(Lys1290Glu)
BRCA1 NM_007297.3 ?/? - c.3727A>G r.(?) p.(Lys1243Glu)
BRCA1 NM_007298.3 ?/? - c.788-631A>G r.(=) p.(=)
BRCA1 NM_007299.3 ?/? - c.788-631A>G r.(=) p.(=)
BRCA1 NM_007300.3 ?/? - c.3868A>G r.(?) p.(Lys1290Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001606 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou