Genomic variant #0000032977

Individual ID 00021707
Chromosome 9
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.98002890A>G
Reference -
DB-ID FANCC_000004 See all 12 reported entries
dbSNP ID -
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 0.00209
Allele Count 12
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCC NM_000136.2 ?/? - c.345+41T>C r.(=) p.(=)
FANCC NM_001243743.1 ?/? - c.345+41T>C r.(=) p.(=)
FANCC NM_001243744.1 ?/? - c.345+41T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001922 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou