Genomic variant #0000016055

Individual ID 00019320
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.45654467A>C
Reference -
DB-ID FANCM_000028
dbSNP ID  rs113986680
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     
FANCM NM_020937.2 -/- - c.4563A>C r.(?) p.(Glu1521Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000412 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou