Genomic variant #0000000087

Individual ID 00015482
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.45644816A>C
Reference -
DB-ID FANCM_000001 See all 16 reported entries
dbSNP ID  rs142864437
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 0.00288
Allele Count 17
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.2859A>C r.(?) p.(Lys953Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000002 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou