Genomic variant #0000024919

Individual ID 00017511
Chromosome 14
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.45636336C>T
Reference -
DB-ID FANCM_000016 See all 5 reported entries
dbSNP ID rs368728266
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 0.0007
Allele Count 4
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCM NM_020937.2 +/+ - c.1972C>T r.(?) p.(Arg658*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001168 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou