Genomic variant #0000040549

Individual ID 00020127
Chromosome 9
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.98009786C>T
Reference -
DB-ID FANCC_000017 See all 7 reported entries
dbSNP ID rs138629441
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 0.00122
Allele Count 7
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.178G>A r.(?) p.(Val60Ile)
FANCC NM_001243743.1 -?/-? - c.178G>A r.(?) p.(Val60Ile)
FANCC NM_001243744.1 -?/-? - c.178G>A r.(?) p.(Val60Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007075 DNA SEQ-NG-I 1 - 46 Despoina Kalfakakou