Genomic variant #0000030846

Individual ID 00021552
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.89882965C>T
Reference -
DB-ID FANCA_000111 See all 6 reported entries
dbSNP ID rs376307136
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 0.00104
Allele Count 6
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.59G>A r.(?) p.(Arg20Lys)
FANCA NM_001018112.1 -?/-? - c.59G>A r.(?) p.(Arg20Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001731 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou