Genomic variant #0000015724

Individual ID 00016747
Chromosome 16
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.89882407G>A
Reference -
DB-ID FANCA_000011 See all 23 reported entries
dbSNP ID rs189841793
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 0.004
Allele Count 23
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCA NM_000135.2 ?/? - c.80-13C>T r.(=) p.(=)
FANCA NM_001018112.1 ?/? - c.80-13C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000404 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou