Individual #00022052

Reference -
Gender F
Geographic origin Pontus
Geographic origin Kefalonia
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     
0000014122 55y - - - - Stevi Xera



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007549 DNA SEQ-NG-I 1 - 48 Stevi Xera



Variants

48 entries on 1 page. Showing entries 1 - 48.
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.47643457G>A - MSH2_000110 rs4987188 - - - - - - Stevi Xera MSH2 - NM_000251.2:c.965G>A, NM_001258281.1:c.767G>A r.(?) p.(Gly322Asp), p.(Gly256Asp)
2 Parent #2 ./. g.58388696A>G - FANCL_000048 rs848291 - - - - - - Stevi Xera FANCL - NM_001114636.1:c.996T>C, NM_018062.3:c.981T>C r.(=) p.(=)
2 Parent #2 ./. g.128017009C>T - ERCC3_000009 - - - - - - - Stevi Xera ERCC3 - NM_000122.1:c.2080G>A r.(?) p.(Ala694Thr)
2 Parent #2 ./. g.232952240A>G - DIS3L2_000018 - - - - - - - Stevi Xera DIS3L2 - NM_001257281.1:c.410A>G, NM_001257282.1:c.410A>G, NM_152383.4:c.410A>G r.(?) p.(Tyr137Cys)
2 Parent #2 ./. g.233198599G>A - DIS3L2_000114 - - - - - - - Stevi Xera DIS3L2 - NM_001257281.1:c.1582-9456G>A, NM_152383.4:c.2060G>A r.(=), r.(?) p.(=), p.(Arg687Gln)
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.10088407_10088410del - FANCD2_000168 - - - - - - - Stevi Xera FANCD2 - NM_001018115.1:c.1278_1278+3del, NM_033084.3:c.1278_1278+3del r.spl? 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.14206341G>C - XPC_000004 - - - - - - - Stevi Xera XPC - NM_001145769.1:c.761C>G, NM_004628.4:c.872C>G r.(?) p.(Ser254Cys), p.(Ser291Cys)
4 Parent #2 ./. g.41748217G>A - PHOX2B_000029 rs17885216 - - - - - - Stevi Xera PHOX2B - NM_003924.3:c.552C>T r.(=) p.(=)
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 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 Parent #2 ./. 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.(=)
7 Parent #2 ./. g.66460278C>A - SBDS_000007 - - - - - - - Stevi Xera SBDS - NM_016038.2:c.127G>T r.(?) p.(Val43Leu)
8 Both (homozygous) ./. g.145737636A>G - RECQL4_000235 rs4925828 - - - - - - Stevi Xera RECQL4 - NM_004260.3:c.3128T>C - p.?
10 Parent #2 ./. g.72358577G>A - PRF1_000042 rs885822 - - - - - - Stevi Xera PRF1 - NM_001083116.1:c.900C>T, NM_005041.4:c.900C>T r.(=) p.(=)
10 Parent #2 ./. g.72358722T>C - PRF1_000014 rs28933375 - - - - - - Stevi Xera PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
10 Parent #2 ./. g.72358886G>A - PRF1_000035 - - - - - - - Stevi Xera PRF1 - NM_001083116.1:c.591C>T, NM_005041.4:c.591C>T r.(=) p.(=)
10 Both (homozygous) ./. g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - Stevi Xera BMPR1A - NM_004329.2:c.4C>A r.(?) p.(Pro2Thr)
11 Both (homozygous) ./. g.47238522T>C - DDB2_000036 rs326212 - - - - - - Stevi Xera DDB2 - NM_000107.2:c.378T>C r.(=) p.(=)
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 Parent #2 ./. g.32914814C>T - BRCA2_000004 rs55794205 - - - - - - Stevi Xera BRCA2 - NM_000059.3:c.6322C>T r.(?) p.(Arg2108Cys)
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 Both (homozygous) ./. g.3639139A>G - SLX4_000176 rs3810812 - - - - - - Stevi Xera SLX4 - NM_032444.2:c.4500T>C r.(=) p.(=)
16 Parent #2 ./. g.14042104T>C - ERCC4_000060 - - - - - - - Stevi Xera ERCC4 - NM_005236.2:c.2651T>C r.(?) p.(Leu884Pro)
17 Parent #2 ./. 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.41245900T>G - BRCA1_000081 rs56012641 - - - - - - Stevi Xera BRCA1 - NM_007294.3:c.1648A>C, NM_007297.3:c.1507A>C, NM_007298.3:c.787+861A>C, NM_007299.3:c.787+861A>C, NM_007300.3:c.1648A>C r.(?), r.(=) p.(Asn550His), p.(Asn503His), p.(=)
17 Parent #2 ./. g.41246092A>G - BRCA1_000083 rs55906931 - - - - - - Stevi Xera BRCA1 - NM_007294.3:c.1456T>C, NM_007297.3:c.1315T>C, NM_007298.3:c.787+669T>C, NM_007299.3:c.787+669T>C, NM_007300.3:c.1456T>C r.(?), r.(=) p.(Phe486Leu), p.(Phe439Leu), p.(=)
17 Parent #2 ./. g.41251803T>C - BRCA1_000022 rs56187033 - - - - - - Stevi Xera BRCA1 - NM_007294.3:c.536A>G, NM_007297.3:c.395A>G, NM_007298.3:c.536A>G, NM_007299.3:c.536A>G, NM_007300.3:c.536A>G r.(?) p.(Tyr179Cys), p.(Tyr132Cys)
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