Individual #00016369

Reference -
Gender F
Geographic origin Athens
Geographic origin Aronas, Pieria
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     
0000008421 32y - - Ductal Invasive III N/A N/A N/A N/A - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000092 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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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     
1 Parent #2 ./. g.161293488A>T - SDHC_000001 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.77+28A>T, NM_001035512.1:c.77+28A>T, NM_001035513.1:c.20+9273A>T, NM_001278172.1:c.77+28A>T, NM_003001.3:c.77+28A>T r.(=) p.(=)
2 Parent #2 ./. g.232879736A>T - DIS3L2_000007 rs78129899 - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.52+47A>T, NM_001257282.1:c.52+47A>T, NM_152383.4:c.52+47A>T r.(=) p.(=)
2 Parent #2 ./. g.232995468T>G - DIS3L2_000014 rs75968600 - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.702+39T>G, NM_001257282.1:c.741T>G, NM_152383.4:c.702+39T>G r.(=) p.(=)
2 Parent #2 ./. g.233199477A>G - DIS3L2_000005 rs2697797 - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8578A>G, NM_152383.4:c.2394+32A>G r.(=) p.(=)
5 Parent #2 ./. g.112176819C>T - APC_000002 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.5528C>T, NM_001127510.2:c.5528C>T, NM_001127511.2:c.5474C>T r.(?) p.(Pro1843Leu), p.(Pro1825Leu)
5 Parent #2 ./. g.176678873G>A - NSD1_000003 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.4765+19G>A, NM_172349.2:c.3958+19G>A r.(=) p.(=)
9 Parent #2 ./. g.98011497G>A - FANCC_000007 rs1800361 - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
9 Parent #2 ./. g.98229582A>G - PTCH1_000013 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2376T>C, NM_001083602.1:c.2178T>C, NM_001083603.1:c.2373T>C, NM_001083604.1:c.1923T>C, NM_001083605.1:c.1923T>C, NM_001083606.1:c.1923T>C, NM_001083607.1:c.1923T>C r.(=) p.(=)
10 Parent #2 ./. g.72358845G>A - PRF1_000003 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.632C>T, NM_005041.4:c.632C>T r.(?) p.(Ala211Val)
11 Parent #2 ./. g.64572098G>C - MEN1_000008 - - - - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1556C>G, NM_130799.2:c.1541C>G, NM_130800.2:c.1556C>G, NM_130801.2:c.1556C>G, NM_130802.2:c.1556C>G, NM_130803.2:c.1556C>G, NM_130804.2:c.1556C>G r.(?) p.(Pro519Arg), p.(Pro514Arg)
15 Parent #2 ./. g.89825056A>G - FANCI_000018 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1573A>G, NM_018193.2:c.1573A>G r.(?) p.(Met525Val)
16 Parent #2 ./. g.2138432C>T - TSC2_000002 rs45517416 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5260-15C>T, NM_001077183.1:c.5059-15C>T, NM_001114382.1:c.5191-15C>T r.(=) p.(=)
16 Parent #2 ./. g.89813078G>C - FANCA_000025 rs61753269 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3427C>G r.(?) p.(Leu1143Val)
17 Parent #2 ./. g.29667654C>T - NF1_000048 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6990C>T, NM_001042492.2:c.7053C>T r.(=) p.(=)
17 Parent #2 ./. g.74471258C>T - RHBDF2_000001 rs62085019 - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1116-35G>A, NM_024599.5:c.1203-35G>A r.(=) p.(=)
X Parent #2 ./. g.51210061T>C - chrX_000001 - - - - - - - Despoina Kalfakakou - - - -
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