Genomic variant #0000031320

Individual ID 00021587
Chromosome 17
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.41244625G>T
Reference -
DB-ID BRCA1_000129
dbSNP ID rs80357497
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.2923C>A r.(?) p.(Gln975Lys)
BRCA1 NM_007297.3 ?/? - c.2782C>A r.(?) p.(Gln928Lys)
BRCA1 NM_007298.3 ?/? - c.788-1576C>A r.(=) p.(=)
BRCA1 NM_007299.3 ?/? - c.788-1576C>A r.(=) p.(=)
BRCA1 NM_007300.3 ?/? - c.2923C>A r.(?) p.(Gln975Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001771 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou