Individual #00020868

Reference -
Gender F
Geographic origin Al Bara, Syria
Geographic origin -
Population Syrian
Consanguinity no
Remarks -
Panel size 1
Diseases FANCA
Owner name Despoina Kalfakakou


Phenotypes

Fanconi anemia, complementation group A (FANCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012695 11y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001545 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
1 Parent #2 ./. g.222045423C>G - chr1_000003 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ./. g.10083289T>G - FANCD2_000041 rs56083801 - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.696-18T>G, NM_033084.3:c.696-18T>G r.(=) p.(=)
8 Parent #2 ./. g.145736832G>A - RECQL4_000073 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3610C>T - p.?
13 Parent #2 ./. g.32968810T>C - BRCA2_000013 rs11571818 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9257-16T>C r.(=) p.(=)
13 Parent #2 ./. g.32972626A>T - BRCA2_000018 rs11571833 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9976A>T r.(?) p.(Lys3326*)
16 Parent #2 ./. g.2132422G>A - TSC2_000026 rs45480591 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3815-15G>A, NM_001077183.1:c.3682+623G>A, NM_001114382.1:c.3814+623G>A r.(=) p.(=)
16 Parent #2 ./. g.3656653T>C - SLX4_000122 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.582A>G r.(=) p.(=)
16 Parent #2 ./. g.3658876G>A - SLX4_000010 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
16 Parent #2 ./. g.23637756G>C - PALB2_000004 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2587-38C>G r.(=) p.(=)
16 Both (homozygous) ./. g.89825115T>A - FANCA_000172 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2853-2A>T r.spl? p.?
Legend