Genomic variant #0000038912

Individual ID 00021316
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.41245588T>A
Reference -
DB-ID BRCA1_000209
dbSNP ID rs80357355
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 0.00015
Allele Count 1
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.1960A>T r.(?) p.(Lys654*)
BRCA1 NM_007297.3 +/+ - c.1819A>T r.(?) p.(Lys607*)
BRCA1 NM_007298.3 +/+ - c.787+1173A>T r.(=) p.(=)
BRCA1 NM_007299.3 +/+ - c.787+1173A>T r.(=) p.(=)
BRCA1 NM_007300.3 +/+ - c.1960A>T r.(?) p.(Lys654*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006923 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou