Genomic variant #0000011170

Individual ID 00021187
Chromosome 17
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41199696G>A
Reference [Apostolou et al. 2020]
DB-ID BRCA1_000025 See all 13 reported entries
dbSNP ID rs397509283
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder Yes
Geographic Origin (for founder variants) Crete, Minor Asia
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00089
Allele Count 6
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.5431C>T r.(?) p.(Gln1811*)
BRCA1 NM_007297.3 +/+ - c.5290C>T r.(?) p.(Gln1764*)
BRCA1 NM_007298.3 +/+ - c.2119C>T r.(?) p.(Gln707*)
BRCA1 NM_007299.3 +/+ - c.2045C>T r.(?) p.(Ala682Val)
BRCA1 NM_007300.3 +/+ - c.5494C>T r.(?) p.(Gln1832*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000292 DNA SEQ-NG-I 1 - 3 Despoina Kalfakakou