Genomic variant #0000036939

Individual ID 00015584
Chromosome 17
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41251882T>C
Reference -
DB-ID BRCA1_000157 See all 3 reported entries
dbSNP ID rs28897674
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 0.00044
Allele Count 3
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.457A>G r.(?) p.(Ser153Gly)
BRCA1 NM_007297.3 -?/-? - c.316A>G r.(?) p.(Ser106Gly)
BRCA1 NM_007298.3 -?/-? - c.457A>G r.(?) p.(Ser153Gly)
BRCA1 NM_007299.3 -?/-? - c.457A>G r.(?) p.(Ser153Gly)
BRCA1 NM_007300.3 -?/-? - c.457A>G r.(?) p.(Ser153Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004762 DNA SEQ 1 BRCA1, BRCA2, CDH1 1 Despoina Kalfakakou