Genomic variant #0000013704

Individual ID 00016689
Chromosome 14
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45650888C>T
Reference -
DB-ID FANCM_000006 See all 18 reported entries
dbSNP ID rs200360968
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 0.00455
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCM NM_020937.2 ?/? - c.4366C>T r.(?) p.(Arg1456Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000354 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou