Genomic variant #0000044260

Individual ID 00022115
Chromosome 17
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.41244429C>T
Reference -
DB-ID BRCA1_000230 See all 6 reported entries
dbSNP ID rs4986852
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00087
Allele Count 6
Allele Number 6936
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRCA1 NM_007294.3 ./. - c.3119G>A r.(?) p.(Ser1040Asn)
BRCA1 NM_007297.3 ./. - c.2978G>A r.(?) p.(Ser993Asn)
BRCA1 NM_007298.3 ./. - c.788-1380G>A r.(=) p.(=)
BRCA1 NM_007299.3 ./. - c.788-1380G>A r.(=) p.(=)
BRCA1 NM_007300.3 ./. - c.3119G>A r.(?) p.(Ser1040Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007613 DNA SEQ-NG-I 1 - 52 Stevi Xera