Genomic variant #0000038776

Individual ID 00021288
Chromosome 16
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.89845197G>A
Reference -
DB-ID FANCA_000005 See all 29 reported entries
dbSNP ID rs183513839
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 0.00504
Allele Count 29
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.1826+12C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006913 DNA SEQ-NG-I 1 - 19 Despoina Kalfakakou