Genomic variant #0000000546

Individual ID 00021009
Chromosome 2
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.58456962C>G
Reference -
DB-ID FANCL_000002 See all 9 reported entries
dbSNP ID rs143819820
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 0.00156
Allele Count 9
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCL NM_001114636.1 -?/-? - c.203G>C r.(?) p.(Arg68Pro)
FANCL NM_018062.3 -?/-? - c.203G>C r.(?) p.(Arg68Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000013 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou