Genomic variant #0000031974

Individual ID 00021642
Chromosome 2
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.58388668_58388670del
Reference -
DB-ID FANCL_000039
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 0.00017
Allele Count 1
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.1022_1024del r.(?) p.(Ile341_Cys342delinsSer)
FANCL NM_018062.3 ?/? - c.1007_1009del r.(?) p.(Ile336_Cys337delinsSer)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001839 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou