Genomic variant #0000016071

Individual ID 00019320
Chromosome X
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.14861817T>C
Reference -
DB-ID FANCB_000014 See all 7 reported entries
dbSNP ID rs143131218
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 0.00139
Allele Count 8
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCB NM_001018113.1 -/- - c.2452A>G r.(?) p.(Arg818Gly)
FANCB NM_152633.2 -/- - c.2452A>G r.(?) p.(Arg818Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000412 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou