Genomic variant #0000042583

Individual ID 00022064
Chromosome 16
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.89865598G>T
Reference -
DB-ID FANCA_000079 See all 8 reported entries
dbSNP ID -
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00136
Allele Count 8
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCA NM_000135.2 ./. - c.869C>A r.(?) p.(Ser290Tyr)
FANCA NM_001018112.1 ./. - c.869C>A r.(?) p.(Ser290Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007561 DNA SEQ-NG-I 1 - 51 Stevi Xera