Genomic variant #0000037304

Individual ID 00019334
Chromosome 17
Allele Maternal (inferred)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41243451C>T
Reference -
DB-ID BRCA1_000196 See all 4 reported entries
dbSNP ID rs80358178
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.4096+1G>A r.spl? p.?
BRCA1 NM_007297.3 +?/+? - c.3955+1G>A r.spl? p.?
BRCA1 NM_007298.3 +?/+? - c.788-402G>A r.(=) p.(=)
BRCA1 NM_007299.3 +?/+? - c.788-402G>A r.(=) p.(=)
BRCA1 NM_007300.3 +?/+? - c.4096+1G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005117 DNA SEQ 0 BRCA1 1 Despoina Kalfakakou