Individual #00016962

Reference -
Gender F
Geographic origin Constantinople
Geographic origin -
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009256 55y - - Lobular Invasive I N/A Positive Positive Negative - - - Despoina Kalfakakou
0000009257 65y - - Lobular Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000733 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou



Variants

18 entries on 1 page. Showing entries 1 - 18.
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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     
2 Parent #2 ./. g.48027755T>C - MSH6_000008 rs2020912 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
3 Parent #2 ./. g.37053637del - MLH1_000068 - - - - - - - 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.(=)
5 Parent #2 ./. g.112177817T>C - APC_000057 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.6526T>C, NM_001127510.2:c.6526T>C, NM_001127511.2:c.6472T>C r.(=) p.(=)
5 Parent #2 ./. g.176722219T>C - NSD1_000045 rs77618751 - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.7850T>C, NM_172349.2:c.7043T>C r.(?) p.(Leu2617Ser), p.(Leu2348Ser)
7 Parent #2 ./. g.6026906C>T - PMS2_000030 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1490G>A r.(?) p.(Gly497Asp)
8 Parent #2 ./. g.30938513A>G - WRN_000018 rs1800390 - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
8 Parent #2 ./. g.30969150C>G - WRN_000062 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2108C>G r.(?) p.(Thr703Ser)
8 Parent #2 ./. g.118842444C>T - EXT1_000017 - - - - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1284+25G>A r.(=) p.(=)
9 Parent #2 ./. g.35074490A>G - FANCG_000019 rs45537335 - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1638T>C r.(=) p.(=)
9 Parent #2 ./. g.98211524G>A - PTCH1_000020 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3631C>T, NM_001083602.1:c.3433C>T, NM_001083603.1:c.3628C>T, NM_001083604.1:c.3178C>T, NM_001083605.1:c.3178C>T, NM_001083606.1:c.3178C>T, NM_001083607.1:c.3178C>T r.(?) p.(Pro1211Ser), p.(Pro1145Ser), p.(Pro1210Ser), p.(Pro1060Ser)
10 Parent #2 ./. g.72357763A>G - PRF1_000016 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.*46T>C, NM_005041.4:c.*46T>C r.(=) p.(=)
10 Parent #2 ./. g.72358215A>C - PRF1_000017 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1262T>G, NM_005041.4:c.1262T>G r.(?) p.(Phe421Cys)
12 Parent #2 ./. g.112645381T>C - chr12_000006 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ./. g.91354640T>G - BLM_000007 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4076+4T>G r.spl? p.?
16 Parent #2 ./. g.2131547G>C - TSC2_000138 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3611-49G>C, NM_001077183.1:c.3479-49G>C, NM_001114382.1:c.3611-49G>C r.(=) p.(=)
19 Parent #2 ./. g.45867799G>A - ERCC2_000031 rs1799792 - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.601C>T, NM_001130867.1:c.529C>T r.(?) p.(His201Tyr), p.(His177Tyr)
22 Parent #2 ./. g.29091178C>A - CHEK2_000012 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1441G>T, NM_001257387.1:c.649G>T, NM_007194.3:c.1312G>T, NM_145862.2:c.1225G>T r.(?) p.(Asp481Tyr), p.(Asp217Tyr), p.(Asp438Tyr), p.(Asp409Tyr)
22 Parent #2 ./. g.30069483G>T - NF2_000004 - - - - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1340+8G>T, NM_016418.5:c.1340+8G>T, NM_181825.2:c.1340+8G>T, NM_181828.2:c.1214+8G>T, NM_181829.2:c.1217+8G>T, NM_181830.2:c.1091+8G>T, NM_181831.2:c.1091+8G>T, NM_181832.2:c.1340+8G>T, NM_181833.2:c.448-21258G>T r.(=) p.(=)
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