Genomic variant #0000025450

Individual ID 00017578
Chromosome 14
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.45606290C>T
Reference -
DB-ID FANCM_000011 See all 26 reported entries
dbSNP ID rs77374493
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 0.00441
Allele Count 26
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCM NM_020937.2 -/- - c.527C>T r.(?) p.(Thr176Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001251 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou