Individual #00017070

Reference -
Gender F
Geographic origin Drama
Geographic origin Thessaloniki
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     
0000009412 35y - - N/A N/A N/A N/A Positive Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000799 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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     
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.112128202A>G - APC_000009 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.705A>G, NM_001127510.2:c.705A>G, NM_001127511.2:c.676-8774A>G r.(=) p.(=)
8 Parent #2 ./. g.145738410_145738411insGGTGCA - RECQL4_000103 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2575_2576insTGCACC - p.?
8 Both (homozygous) ./. g.145738765del - RECQL4_000007 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2300del - p.?
8 Parent #2 ./. g.145739116_145739122del - RECQL4_000105 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-26_2059-20del - p.?
8 Parent #2 ./. g.145739817G>A - RECQL4_000108 rs35876881 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1704+9C>T - p.?
8 Parent #2 ./. g.145742850T>C - RECQL4_000100 rs35198096 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.161A>G - p.?
9 Parent #2 ./. g.98240489G>A - PTCH1_000029 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1216-21C>T, NM_001083602.1:c.1018-21C>T, NM_001083603.1:c.1213-21C>T, NM_001083604.1:c.763-21C>T, NM_001083605.1:c.763-21C>T, NM_001083606.1:c.763-21C>T, NM_001083607.1:c.763-21C>T r.(=) p.(=)
9 Parent #2 ./. g.135804266G>A - TSC1_000005 rs62621221 - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.-7C>T, NM_001162426.1:c.-7C>T, NM_001162427.1:c.-7C>T r.(=) p.(=)
10 Parent #2 ./. g.51549473C>T - chr10_000001 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.95546226G>C - CEP57_000002 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.306G>C, NM_001243777.1:c.333G>C, NM_014679.4:c.333G>C r.(?) p.(Gln102His), p.(Gln111His)
15 Parent #2 ./. g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 ./. g.2112494A>G - TSC2_000146 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1258-4A>G, NM_001077183.1:c.1258-4A>G, NM_001114382.1:c.1258-4A>G r.spl? p.?
16 Parent #2 ./. g.89805134G>C - FANCA_000093 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4261-18C>G r.(=) p.(=)
Legend