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     

BRCA/FH     

Subtype     

Owner     
0000009412 35y - - - - 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.
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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     
3 Parent #2 ?/? g.14193818C>A - XPC_000032 - - Germline - - - - 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 rs147036141 - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2575_2576insTGCACC - p.?
8 Both (homozygous) ?/? g.145738765del - RECQL4_000007 rs752895803 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2300del - p.?
8 Parent #2 ?/? g.145739116_145739122del - RECQL4_000105 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-26_2059-20del - p.?
8 Parent #2 -/- g.145739817G>A - RECQL4_000108 rs35876881 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1704+9C>T - p.?
8 Parent #2 -/- g.145742850T>C - RECQL4_000100 rs35198096 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.161A>G - p.?
9 Parent #2 ?/? g.98240489G>A - PTCH1_000029 rs368690944 - Germline - - - - 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 - Germline - - - - 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 rs117321017 - Germline - - - - 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 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 ?/? g.2112494A>G - TSC2_000146 - - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4261-18C>G r.(=) p.(=)
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