Individual #00017530

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Kavala
Population Greek
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     

BRCA/FH     

Subtype     

Owner     
0000010021 47y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001181 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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.10106099T>A - FANCD2_000101 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2007T>A, NM_033084.3:c.2007T>A r.(?) p.(Cys669*)
3 Parent #2 -/- g.14212047G>A - XPC_000008 rs41545713 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
3 Parent #2 ?/? g.14220043C>A - XPC_000037 rs376802950 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.26G>T, NM_004628.4:c.26G>T r.(?) p.(Gly9Val)
3 Parent #2 ?/? g.37053637del - MLH1_000068 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.677+47del, NM_001167617.1:c.383+47del, NM_001167618.1:c.-47+47del, NM_001167619.1:c.-47+47del, NM_001258271.1:c.677+47del, NM_001258273.1:c.-47+47del, NM_001258274.1:c.-47+47del r.(=) p.(=)
4 Parent #2 -?/-? g.41747993_41748013del - PHOX2B_000012 rs17879189 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.756_776del r.(?) p.(Ala254_Ala260del)
5 Parent #2 -?/-? g.112179359G>A - APC_000004 rs140868933 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.8068G>A, NM_001127510.2:c.8068G>A, NM_001127511.2:c.8014G>A r.(?) p.(Ala2690Thr), p.(Ala2672Thr)
11 Parent #2 -/- g.108175387G>C - ATM_000035 rs3092828 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5497-15G>C r.(=) p.(=)
11 Both (homozygous) ?/? g.111958677A>G - SDHD_000003 rs11214077 - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.149A>G, NM_001276504.1:c.53-914A>G, NM_001276506.1:c.149A>G, NM_003002.3:c.149A>G r.(?), r.(=) p.(His50Arg), p.(=)
15 Parent #2 -?/-? g.40509802C>T - BUB1B_000046 rs139066741 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2784C>T r.(=) p.(=)
16 Parent #2 -?/-? g.89815038G>A - FANCA_000026 rs1800348 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
17 Parent #2 -?/-? g.17117017G>A - FLCN_000038 rs201810397 - Germline - - - - Despoina Kalfakakou FLCN - NM_144997.5:c.1692C>T r.(=) p.(=)
17 Parent #2 ?/? g.29557990G>A - NF1_000171 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3197+47G>A, NM_001042492.2:c.3197+47G>A r.(=) p.(=)
19 Parent #2 -?/-? g.45858069G>T - ERCC2_000072 rs199551160 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1584C>A, NM_001130867.1:c.*4049C>A r.(=) p.(=)
19 Parent #2 -?/-? g.45867799G>A - ERCC2_000031 rs1799792 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.601C>T, NM_001130867.1:c.529C>T r.(?) p.(His201Tyr), p.(His177Tyr)
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