Individual #00017910

Reference -
Gender F
Geographic origin Ioannina
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     
0000010730 36y - - Ductal Invasive II III Negative Negative N/A - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002035 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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     
1 Parent #2 ./. g.161284221T>G - SDHC_000028 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.20+6T>G, NM_001035512.1:c.20+6T>G, NM_001035513.1:c.20+6T>G, NM_001278172.1:c.20+6T>G, NM_003001.3:c.20+6T>G r.(=) p.(=)
2 Parent #2 ./. g.58388611T>C - FANCL_000015 - - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.1035+46A>G, NM_018062.3:c.1020+46A>G r.(=) p.(=)
3 Parent #2 ./. g.14193818C>A - XPC_000032 rs71306081 - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2004+17G>T, NM_004628.4:c.2115+17G>T r.(=) p.(=)
5 Parent #2 ./. g.176715770del - NSD1_000006 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.6152-50del, NM_172349.2:c.5345-50del r.(=) p.(=)
8 Parent #2 ./. g.128518593G>A - chr8_000020 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.110888520T>C - chr9_000012 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.43601969C>T - RET_000034 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.1013C>T, NM_020975.4:c.1013C>T r.(?) p.(Thr338Ile)
11 Parent #2 ./. g.95532375A>G - CEP57_000005 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.19-21A>G, NM_001243777.1:c.46-21A>G, NM_014679.4:c.46-21A>G r.(=) p.(=)
12 Parent #2 ./. g.121437108C>T - HNF1A_000015 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1539C>T r.(=) p.(=)
13 Parent #2 ./. g.32910537T>A - BRCA2_000220 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2045T>A r.(?) p.(Ile682Asn)
16 Parent #2 ./. g.2124416G>A - TSC2_000095 rs45517242 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2545+26G>A, NM_001077183.1:c.2545+26G>A, NM_001114382.1:c.2545+26G>A r.(=) p.(=)
17 Parent #2 ./. g.41203170T>C - BRCA1_000146 - - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.5278-36A>G, NM_007297.3:c.5137-36A>G, NM_007298.3:c.1966-36A>G, NM_007299.3:c.1966-36A>G, NM_007300.3:c.5341-36A>G r.(=) p.(=)
19 Parent #2 ./. g.45854910C>G - ERCC2_000079 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2260G>C r.(?) p.(Glu754Gln)
Legend