Genomic variant #0000034442

Individual ID 00021777
Chromosome 14
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45628478C>G
Reference -
DB-ID FANCM_000116 See all 2 reported entries
dbSNP ID rs144215747
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 0.00035
Allele Count 2
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.1576C>G r.(?) p.(Leu526Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002053 DNA SEQ-NG-I 1 - 4 Despoina Kalfakakou