Individual #00017546

Reference -
Gender F
Geographic origin Ithomi, Karditsa
Geographic origin Emmanouil Pappas, Serres
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     
0000010043 42y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001193 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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     
8 Parent #2 ?/? g.119122769T>C - EXT1_000022 - - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.517A>G r.(?) p.(Asn173Asp)
8 Parent #2 ?/? g.145737131C>G - RECQL4_000120 rs61755066 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3436G>C - p.?
9 Parent #2 ?/? g.98241259C>T - PTCH1_000062 rs2066840 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1215+23G>A, NM_001083602.1:c.1017+23G>A, NM_001083603.1:c.1212+23G>A, NM_001083604.1:c.762+23G>A, NM_001083605.1:c.762+23G>A, NM_001083606.1:c.762+23G>A, NM_001083607.1:c.762+23G>A r.(=) p.(=)
9 Parent #2 ?/? g.135797351G>A - TSC1_000047 rs777484049 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.518C>T, NM_001162426.1:c.518C>T, NM_001162427.1:c.365C>T r.(?) p.(Ala173Val), p.(Ala122Val)
13 Parent #2 -/- g.32971042A>G - BRCA2_000177 rs80359224 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9509A>G r.(?) p.(Asp3170Gly)
16 Parent #2 -/- g.2103392A>T - TSC2_000059 rs137853994 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.275A>T, NM_001077183.1:c.275A>T, NM_001114382.1:c.275A>T r.(?) p.(Glu92Val)
16 Parent #2 ?/? g.89836478C>A - FANCA_000138 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2317-46G>T r.(=) p.(=)
17 Parent #2 ?/? g.33428027A>T Konstanta et al (2018) RAD51D_000010 rs145309168 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.992T>A, NM_002878.3:c.932T>A, NM_133629.2:c.596T>A r.(?) p.(Ile331Asn), p.(Ile311Asn), p.(Ile199Asn)
17 Parent #2 +/+ g.41243844_41243848del - BRCA1_000046 rs80357609 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3700_3704del, NM_007297.3:c.3559_3563del, NM_007298.3:c.788-799_788-795del, NM_007299.3:c.788-799_788-795del, NM_007300.3:c.3700_3704del r.(?), r.(=) p.(Val1234Glnfs*8), p.(Val1187Glnfs*8), p.(=)
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