Genomic variant #0000004767

Individual ID 00016401
Chromosome 17
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41245683G>A
Reference -
DB-ID BRCA1_000008 See all 4 reported entries
dbSNP ID rs56039126
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 0.00059
Allele Count 4
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.1865C>T r.(?) p.(Ala622Val)
BRCA1 NM_007297.3 -/- - c.1724C>T r.(?) p.(Ala575Val)
BRCA1 NM_007298.3 -/- - c.787+1078C>T r.(=) p.(=)
BRCA1 NM_007299.3 -/- - c.787+1078C>T r.(=) p.(=)
BRCA1 NM_007300.3 -/- - c.1865C>T r.(?) p.(Ala622Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000117 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou