Genomic variant #0000008383

Individual ID 00016512
Chromosome 9
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.97912307T>A
Reference -
DB-ID FANCC_000001 See all 29 reported entries
dbSNP ID rs1800365
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 0.00492
Allele Count 29
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCC NM_000136.2 -/- - c.584A>T r.(?) p.(Asp195Val)
FANCC NM_001243743.1 -/- - c.584A>T r.(?) p.(Asp195Val)
FANCC NM_001243744.1 -/- - c.584A>T r.(?) p.(Asp195Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000226 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou