Individual #00017118

Reference -
Gender F
Geographic origin Nicaea
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
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     
0000009469 44y - - - - Despoina Kalfakakou
0000009470 38y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000831 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.45797157G>T - MUTYH_000006 rs144079536 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1216C>A, NM_001048172.1:c.1177C>A, NM_001048173.1:c.1174C>A, NM_001048174.1:c.1174C>A, NM_001128425.1:c.1258C>A, NM_012222.2:c.1249C>A r.(?) p.(Leu406Met), p.(Leu393Met), p.(Leu392Met), p.(Leu420Met), p.(Leu417Met)
1 Parent #2 ?/? g.45797255G>A - MUTYH_000008 rs3219490 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145-27C>T, NM_001048172.1:c.1106-27C>T, NM_001048173.1:c.1103-27C>T, NM_001048174.1:c.1103-27C>T, NM_001128425.1:c.1187-27C>T, NM_012222.2:c.1178-27C>T r.(=) p.(=)
3 Parent #2 ?/? g.128205201G>A - GATA2_000011 - - Germline - - - - Despoina Kalfakakou GATA2 - NM_001145661.1:c.240C>T, NM_001145662.1:c.240C>T, NM_032638.4:c.240C>T r.(=) p.(=)
8 Parent #2 ?/? g.90976602G>A - NBN_000030 - - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.994+36C>T r.(=) p.(=)
10 Parent #2 -?/-? g.72360577G>A - PRF1_000009 rs141660796 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.82C>T, NM_005041.4:c.82C>T r.(?) p.(Arg28Cys)
17 Parent #2 ?/? g.29497066A>G - NF1_000202 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.586+51A>G, NM_001042492.2:c.586+51A>G, NM_001128147.2:c.586+51A>G r.(=) p.(=)
17 Parent #2 ?/? g.29663626A>T - NF1_000201 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6085-27A>T, NM_001042492.2:c.6148-27A>T r.(=) p.(=)
22 Parent #2 +?/+? g.29121058C>T - CHEK2_000024 rs72552322 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.628G>A, NM_001257387.1:c.-279G>A, NM_007194.3:c.499G>A, NM_145862.2:c.499G>A r.(=), r.(?) p.(Gly210Arg), p.(=), p.(Gly167Arg)
22 Parent #2 ?/? g.30035048T>C - NF2_000025 - - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.241-31T>C, NM_016418.5:c.241-31T>C, NM_181825.2:c.241-31T>C, NM_181828.2:c.115-31T>C, NM_181829.2:c.240+2183T>C, NM_181830.2:c.115-3143T>C, NM_181831.2:c.115-3143T>C, NM_181832.2:c.241-31T>C, NM_181833.2:c.241-31T>C r.(=) p.(=)
Legend