Genomic variant #0000021970

Individual ID 00017215
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.41243941G>A
Reference -
DB-ID BRCA1_000004 See all 25 reported entries
dbSNP ID rs62625308
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 0.00089
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.3607C>T r.(?) p.(Arg1203*)
BRCA1 NM_007297.3 +/+ - c.3466C>T r.(?) p.(Arg1156*)
BRCA1 NM_007298.3 +/+ - c.788-892C>T r.(=) p.(=)
BRCA1 NM_007299.3 +/+ - c.788-892C>T r.(=) p.(=)
BRCA1 NM_007300.3 +/+ - c.3607C>T r.(?) p.(Arg1203*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000875 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou