Individual #00017416

Reference -
Gender F
Geographic origin Bulgaria
Geographic origin Romania
Population Romanian
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     
0000009879 35y - - Ductal Invasive III N/A Negative Negative Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001074 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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.161326520T>A - SDHC_000013 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5599T>A, NM_001035512.1:c.193T>A, NM_001035513.1:c.136T>A, NM_001278172.1:c.140-5599T>A, NM_003001.3:c.295T>A r.(=), r.(?) p.(=), p.(Tyr65Asn), p.(Tyr46Asn), p.(Tyr99Asn)
1 Parent #2 ./. g.161326531T>C - SDHC_000014 rs11547241 - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5588T>C, NM_001035512.1:c.204T>C, NM_001035513.1:c.147T>C, NM_001278172.1:c.140-5588T>C, NM_003001.3:c.306T>C r.(=) p.(=)
1 Parent #2 ./. g.161326532G>C - SDHC_000015 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5587G>C, NM_001035512.1:c.205G>C, NM_001035513.1:c.148G>C, NM_001278172.1:c.140-5587G>C, NM_003001.3:c.307G>C r.(=), r.(?) p.(=), p.(Val69Leu), p.(Val50Leu), p.(Val103Leu)
1 Parent #2 ./. g.161326564C>T - SDHC_000016 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5555C>T, NM_001035512.1:c.237C>T, NM_001035513.1:c.180C>T, NM_001278172.1:c.140-5555C>T, NM_003001.3:c.339C>T r.(=) p.(=)
3 Parent #2 ./. g.10091153C>T - FANCD2_000017 rs6785756 - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
3 Parent #2 ./. g.14209914T>G - XPC_000045 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.406-138A>C, NM_004628.4:c.413-34A>C r.(=) p.(=)
7 Parent #2 ./. g.6026708C>A - PMS2_000001 rs63750668 - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
11 Parent #2 ./. g.108127089A>C - ATM_000042 rs3218692 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2250+22A>C r.(=) p.(=)
11 Parent #2 ./. g.108127101A>C - ATM_000043 rs3218705 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2250+34A>C r.(=) p.(=)
16 Parent #2 ./. g.14029437del - ERCC4_000031 - - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1648del r.(?) p.(Leu551Serfs*16)
17 Parent #2 ./. g.41256101_41256103del - BRCA1_000065 - - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.441+36_441+38del, NM_007297.3:c.300+36_300+38del, NM_007298.3:c.441+36_441+38del, NM_007299.3:c.441+36_441+38del, NM_007300.3:c.441+36_441+38del r.(=) p.(=)
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