Individual #00017912

Reference -
Gender F
Geographic origin Bulgaria
Geographic origin -
Population Bulgarian
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000010735 38y - - Ductal Invasive N/A N/A Positive Positive Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002038 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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     
3 Parent #2 ./. g.10116239C>T - FANCD2_000090 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2741C>T, NM_033084.3:c.2741C>T r.(?) p.(Thr914Ile)
4 Parent #2 ./. g.55604597T>A - KIT_000013 rs72549296 - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2805T>A, NM_001093772.1:c.2793T>A r.(=) p.(=)
8 Parent #2 ./. g.145736909C>T - RECQL4_000156 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3533G>A - p.?
8 Parent #2 ./. g.145739905G>A - RECQL4_000193 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1625C>T - p.?
9 Parent #2 ./. g.35075062C>T - FANCG_000036 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1498G>A r.(?) p.(Glu500Lys)
9 Parent #2 ./. g.98231110G>A - PTCH1_000015 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
14 Parent #2 ./. g.45636210A>G - FANCM_000004 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1846A>G r.(?) p.(Arg616Gly)
16 Parent #2 ./. g.3639713G>A - SLX4_000154 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3926C>T r.(?) p.(Ser1309Phe)
16 Parent #2 ./. g.89882407G>A - FANCA_000011 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.80-13C>T, NM_001018112.1:c.80-13C>T r.(=) p.(=)
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