Individual #00022037

Reference -
Gender F
Geographic origin Corfu
Geographic origin Ioannina
Population -
Consanguinity -
Remarks -
Panel size 1
Diseases BrCa
Owner name Stevi Xera


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000014102 39y - - - - Stevi Xera



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007534 DNA SEQ-NG-I 1 - 47 Stevi Xera



Variants

47 entries on 1 page. Showing entries 1 - 47.
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 Both (homozygous) ./. g.17380497G>T - SDHB_000037 rs2746462 - - - - - - Stevi Xera SDHB - NM_003000.2:c.18C>A r.(=) p.(=)
2 Both (homozygous) ./. g.29455267A>G - ALK_000126 rs2256740 - - - - - - Stevi Xera ALK - NM_004304.4:c.2535T>C r.(=) p.(=)
2 Both (homozygous) ./. g.29543663T>C - ALK_000127 rs2293564 - - - - - - Stevi Xera ALK - NM_004304.4:c.1500A>G r.(=) p.(=)
2 Both (homozygous) ./. g.29940529A>T - ALK_000128 rs2246745 - - - - - - Stevi Xera ALK - NM_004304.4:c.702T>A r.(=) p.(=)
2 Parent #2 ./. g.47607081A>G - EPCAM_000002 - - - - - - - Stevi Xera EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47698179A>G - MSH2_000003 rs61756467 - - - - - - Stevi Xera MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
2 Parent #2 ./. g.232894725G>T - DIS3L2_000051 - - - - - - - Stevi Xera DIS3L2 - NM_001257281.1:c.301G>T, NM_001257282.1:c.301G>T, NM_152383.4:c.301G>T r.(?) p.(Ala101Ser)
3 Parent #2 ./. g.10088266G>T - FANCD2_000170 rs72492997 - - - - - - Stevi Xera FANCD2 - NM_001018115.1:c.1137G>T, NM_033084.3:c.1137G>T r.(=) p.(=)
3 Parent #2 ./. g.10088299C>T - FANCD2_000171 rs73126214 - - - - - - Stevi Xera FANCD2 - NM_001018115.1:c.1170C>T, NM_033084.3:c.1170C>T r.(=) p.(=)
3 Parent #2 ./. g.10088308T>C - FANCD2_000172 rs72492998 - - - - - - Stevi Xera FANCD2 - NM_001018115.1:c.1179T>C, NM_033084.3:c.1179T>C r.(=) p.(=)
3 Parent #2 ./. g.10088343A>G - FANCD2_000173 rs73126218 - - - - - - Stevi Xera FANCD2 - NM_001018115.1:c.1214A>G, NM_033084.3:c.1214A>G r.(?) p.(Asn405Ser)
3 Parent #2 ./. g.10088404C>T - FANCD2_000167 - - - - - - - Stevi Xera FANCD2 - NM_001018115.1:c.1275C>T, NM_033084.3:c.1275C>T r.(=) p.(=)
3 Parent #2 ./. g.10089723G>A - FANCD2_000169 rs12330369 - - - - - - Stevi Xera FANCD2 - NM_001018115.1:c.1401G>A, NM_033084.3:c.1401G>A r.(=) p.(=)
3 Parent #2 ./. g.52439298T>G - BAP1_000041 - - - - - - - Stevi Xera BAP1 - NM_004656.3:c.944A>C r.(?) p.(Glu315Ala)
4 Parent #2 ./. g.55593437G>A - KIT_000024 rs55792975 - - - - - - Stevi Xera KIT - NM_000222.2:c.1594G>A, NM_001093772.1:c.1582G>A r.(?) p.(Val532Ile), p.(Val528Ile)
5 Both (homozygous) ./. g.112176559T>G - APC_000175 rs866006 - - - - - - Stevi Xera APC - NM_000038.5:c.5268T>G, NM_001127510.2:c.5268T>G, NM_001127511.2:c.5214T>G r.(=) p.(=)
5 Both (homozygous) ./. g.112176756T>A - APC_000176 rs459552 - - - - - - Stevi Xera APC - NM_000038.5:c.5465T>A, NM_001127510.2:c.5465T>A, NM_001127511.2:c.5411T>A r.(?) p.(Val1822Asp), p.(Val1804Asp)
5 Parent #2 ./. g.176562872C>A - NSD1_000113 - - - - - - - Stevi Xera NSD1 - NM_022455.4:c.768C>A, NM_172349.2:c.31-70C>A r.(=) p.(=)
5 Both (homozygous) ./. g.176721198T>C - NSD1_000111 rs28580074 - - - - - - Stevi Xera NSD1 - NM_022455.4:c.6829T>C, NM_172349.2:c.6022T>C r.(=) p.(=)
6 Both (homozygous) ./. g.35423662A>C - FANCE_000054 rs4713867 - - - - - - Stevi Xera FANCE - NM_021922.2:c.387A>C r.(=) p.(=)
7 Parent #2 ./. g.6013049C>G - PMS2_000115 rs1802683 - - - - - - Stevi Xera PMS2 - NM_000535.5:c.2570G>C r.(?) p.(Gly857Ala)
7 Parent #2 ./. g.6026775T>C - PMS2_000113 rs2228006 - - - - - - Stevi Xera PMS2 - NM_000535.5:c.1621A>G r.(?) p.(Lys541Glu)
7 Parent #2 ./. g.6036980G>C - PMS2_000112 rs1805319 - - - - - - Stevi Xera PMS2 - NM_000535.5:c.780C>G r.(=) p.(=)
7 Both (homozygous) ./. g.55266417T>C - EGFR_000087 rs1140475 - - - - - - Stevi Xera EGFR - NM_005228.3:c.2709T>C r.(=) p.(=)
8 Both (homozygous) ./. g.145737636A>G - RECQL4_000235 rs4925828 - - - - - - Stevi Xera RECQL4 - NM_004260.3:c.3128T>C - p.?
9 Parent #2 ./. g.21971137T>G - CDKN2A_000029 - - - - - - - Stevi Xera CDKN2A - NM_000077.4:c.221A>C, NM_001195132.1:c.221A>C, NM_058195.3:c.264A>C, NM_058197.4:c.*144A>C r.(?), r.(=) p.(Asp74Ala), p.(=)
9 Parent #2 ./. g.98244242T>C - PTCH1_000133 rs1805154 - - - - - - Stevi Xera PTCH1 - NM_000264.3:c.735A>G, NM_001083602.1:c.537A>G, NM_001083603.1:c.732A>G, NM_001083604.1:c.282A>G, NM_001083605.1:c.282A>G, NM_001083606.1:c.282A>G, NM_001083607.1:c.282A>G r.(=) p.(=)
10 Parent #2 ./. g.43595968A>G - RET_000120 rs1800858 - - - - - - Stevi Xera RET - NM_020630.4:c.135A>G, NM_020975.4:c.135A>G r.(=) p.(=)
10 Parent #2 ./. g.43613843G>T - RET_000119 rs1800861 - - - - - - Stevi Xera RET - NM_020630.4:c.2307G>T, NM_020975.4:c.2307G>T r.(=) p.(=)
10 Parent #2 ./. g.72360140C>T - PRF1_000005 - - - - - - - Stevi Xera PRF1 - NM_001083116.1:c.519G>A, NM_005041.4:c.519G>A r.(=) p.(=)
10 Parent #2 ./. g.72360291C>T - PRF1_000006 - - - - - - - Stevi Xera PRF1 - NM_001083116.1:c.368G>A, NM_005041.4:c.368G>A r.(?) p.(Arg123His)
10 Parent #2 ./. g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - Stevi Xera BMPR1A - NM_004329.2:c.4C>A r.(?) p.(Pro2Thr)
11 Parent #2 ./. g.22646532C>T - FANCF_000026 rs36045913 - - - - - - Stevi Xera FANCF - NM_022725.3:c.825G>A r.(=) p.(=)
11 Both (homozygous) ./. g.47238522T>C - DDB2_000036 rs326212 - - - - - - Stevi Xera DDB2 - NM_000107.2:c.378T>C r.(=) p.(=)
11 Parent #2 ./. g.67250676G>A - AIP_000009 - - - - - - - Stevi Xera AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
11 Both (homozygous) ./. g.67258391A>G - AIP_000036 rs4930199 - - - - - - Stevi Xera AIP - NM_003977.2:c.920A>G r.(?) p.(Gln307Arg)
13 Both (homozygous) ./. g.32913055A>G - BRCA2_000321 rs206075 - - - - - - Stevi Xera BRCA2 - NM_000059.3:c.4563A>G r.(=) p.(=)
13 Both (homozygous) ./. g.32915005G>C - BRCA2_000320 rs206076 - - - - - - Stevi Xera BRCA2 - NM_000059.3:c.6513G>C r.(=) p.(=)
13 Both (homozygous) ./. g.103527849G>C - ERCC5_000099 rs9514066 - - - - - - Stevi Xera ERCC5 - NM_000123.3:c.3157G>C r.(?) p.(Gly1053Arg)
13 Both (homozygous) ./. g.103527930G>C - ERCC5_000100 rs9514067 - - - - - - Stevi Xera ERCC5 - NM_000123.3:c.3238G>C r.(?) p.(Gly1080Arg)
15 Parent #2 ./. g.40510662C>T - BUB1B_000076 rs1802286 - - - - - - Stevi Xera BUB1B - NM_001211.5:c.2856C>T r.(=) p.(=)
16 Parent #2 ./. g.3639139A>G - SLX4_000176 rs3810812 - - - - - - Stevi Xera SLX4 - NM_032444.2:c.4500T>C r.(=) p.(=)
17 Both (homozygous) ./. g.7579472G>C - TP53_000048 rs1042522 - - - - - - Stevi Xera TP53 - NM_000546.5:c.215C>G, NM_001126112.2:c.215C>G, NM_001126113.2:c.215C>G, NM_001126114.2:c.215C>G, NM_001126115.1:c.-939C>G, NM_001126116.1:c.-939C>G, NM_001126117.1:c.-939C>G, NM_001126118.1:c.98C>G, NM_001276695.1:c.98C>G, NM_001276696.1:c.98C>G, NM_001276697.1:c.-1020C>G, NM_001276698.1:c.-1020C>G, NM_001276699.1:c.-1020C>G, NM_001276760.1:c.98C>G, NM_001276761.1:c.98C>G r.(?), r.(=) p.(Pro72Arg), p.(=), p.(Pro33Arg)
17 Both (homozygous) ./. g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera NF1 - NM_000267.3:c.702G>A, NM_001042492.2:c.702G>A, NM_001128147.2:c.702G>A - -
17 Parent #2 ./. g.41244936G>A - BRCA1_000231 rs799917 - - - - - - Stevi Xera BRCA1 - NM_007294.3:c.2612C>T, NM_007297.3:c.2471C>T, NM_007298.3:c.787+1825C>T, NM_007299.3:c.787+1825C>T, NM_007300.3:c.2612C>T r.(?), r.(=) p.(Pro871Leu), p.(Pro824Leu), p.(=)
17 Parent #2 ./. g.59886067G>C - BRIP1_000045 rs45459799 - - - - - - Stevi Xera BRIP1 - NM_032043.2:c.679C>G r.(?) p.(Gln227Glu)
17 Both (homozygous) ./. g.74475024G>A - RHBDF2_000076 rs3744045 - - - - - - Stevi Xera RHBDF2 - NM_001005498.3:c.536C>T, NM_024599.5:c.623C>T r.(?) p.(Pro179Leu), p.(Pro208Leu)
Legend