Individual #00016956

Reference -
Gender F
Geographic origin Athens
Geographic origin Aetolia-Acarnania
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     
0000009248 34y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000724 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou



Variants

17 entries on 1 page. Showing entries 1 - 17.
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     
7 Parent #2 ?/? g.6042129G>A - PMS2_000033 rs35311046 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.492C>T r.(=) p.(=)
7 Parent #2 ?/? g.6042143G>T - PMS2_000043 rs36038802 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.478C>A r.(?) p.(Gln160Lys)
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
7 Parent #2 ?/? g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-43T>C r.(=) p.(=)
7 Parent #2 ?/? g.6043552G>A - PMS2_000037 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.250+51C>T r.(=) p.(=)
9 Parent #2 -?/-? g.98209575G>A - PTCH1_000057 rs139071993 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3963C>T, NM_001083602.1:c.3765C>T, NM_001083603.1:c.3960C>T, NM_001083604.1:c.3510C>T, NM_001083605.1:c.3510C>T, NM_001083606.1:c.3510C>T, NM_001083607.1:c.3510C>T r.(=) p.(=)
10 Parent #2 -?/-? g.89690764A>G - PTEN_000007 rs370918174 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.210-39A>G r.(=) p.(=)
11 Parent #2 -/- g.64572560C>T - MEN1_000003 rs138770431 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1311G>A, NM_130799.2:c.1296G>A, NM_130800.2:c.1311G>A, NM_130801.2:c.1311G>A, NM_130802.2:c.1311G>A, NM_130803.2:c.1311G>A, NM_130804.2:c.1311G>A r.(=) p.(=)
11 Parent #2 ?/? g.108159861A>G - ATM_000115 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4236+31A>G r.(=) p.(=)
17 Parent #2 ?/? g.29554505_29554506insTA - NF1_000181 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2326-36_2326-35insTA, NM_001042492.2:c.2326-36_2326-35insTA, NM_001128147.2:c.*5497_*5498insTA r.(=) p.(=)
17 Parent #2 ?/? g.29562932G>A - NF1_000139 rs558421445 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3871-4G>A, NM_001042492.2:c.3871-4G>A r.spl? p.?
17 Parent #2 -?/-? g.41223088C>T - BRCA1_000054 rs80356987 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4843G>A, NM_007297.3:c.4702G>A, NM_007298.3:c.1531G>A, NM_007299.3:c.1531G>A, NM_007300.3:c.4906G>A r.(?) p.(Ala1615Thr), p.(Ala1568Thr), p.(Ala511Thr), p.(Ala1636Thr)
17 Parent #2 -?/-? g.41243837T>C - BRCA1_000051 rs80357388 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3711A>G, NM_007297.3:c.3570A>G, NM_007298.3:c.788-788A>G, NM_007299.3:c.788-788A>G, NM_007300.3:c.3711A>G r.(?), r.(=) p.(Ile1237Met), p.(Ile1190Met), p.(=)
17 Parent #2 -?/-? g.41243960T>G - BRCA1_000072 rs876658595 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3588A>C, NM_007297.3:c.3447A>C, NM_007298.3:c.788-911A>C, NM_007299.3:c.788-911A>C, NM_007300.3:c.3588A>C r.(=) p.(=)
22 Parent #2 -?/-? g.29085075G>T - CHEK2_000028 rs4035546 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1671+48C>A, NM_001257387.1:c.879+48C>A, NM_007194.3:c.1542+48C>A, NM_145862.2:c.1455+48C>A r.(=) p.(=)
22 Parent #2 ?/? g.29085139G>A - CHEK2_000037 rs587782541 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1655C>T, NM_001257387.1:c.863C>T, NM_007194.3:c.1526C>T, NM_145862.2:c.1439C>T r.(?) p.(Pro552Leu), p.(Pro288Leu), p.(Pro509Leu), p.(Pro480Leu)
22 Parent #2 ?/? g.29091142C>T - CHEK2_000016  rs1555913429 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1477G>A, NM_001257387.1:c.685G>A, NM_007194.3:c.1348G>A, NM_145862.2:c.1261G>A r.(?) p.(Glu493Lys), p.(Glu229Lys), p.(Glu450Lys), p.(Glu421Lys)
Legend