Individual #00022094

Reference -
Gender F
Geographic origin Sitia, Crete
Geographic origin Mani Peninsula & Icaria
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     
0000014164 33y - - - - Stevi Xera
0000014165 36y bone metastasis - - - Stevi Xera



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007592 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.(=)
1 Parent #2 ./. g.45797139G>A - MUTYH_000005 - - - - - - - Stevi Xera MUTYH - NM_001048171.1:c.1234C>T, NM_001048172.1:c.1195C>T, NM_001048173.1:c.1192C>T, NM_001048174.1:c.1192C>T, NM_001128425.1:c.1276C>T, NM_012222.2:c.1267C>T r.(?) p.(Arg412Cys), p.(Arg399Cys), p.(Arg398Cys), p.(Arg426Cys), p.(Arg423Cys)
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.58388696A>G - FANCL_000048 rs848291 - - - - - - Stevi Xera FANCL - NM_001114636.1:c.996T>C, NM_018062.3:c.981T>C r.(=) p.(=)
3 Parent #2 ./. g.10085536A>G - FANCD2_000166 rs34046352 - - - - - - Stevi Xera FANCD2 - NM_001018115.1:c.1122A>G, NM_033084.3:c.1122A>G r.(=) p.(=)
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.10091153C>T - FANCD2_000017 rs6785756 - - - - - - Stevi Xera FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>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 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 Both (homozygous) ./. g.6026775T>C - PMS2_000113 rs2228006 - - - - - - Stevi Xera PMS2 - NM_000535.5:c.1621A>G r.(?) p.(Lys541Glu)
7 Both (homozygous) ./. 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.21970916C>T - CDKN2A_000030 rs3731249 - - - - - - Stevi Xera CDKN2A - NM_000077.4:c.442G>A, NM_001195132.1:c.442G>A, NM_058195.3:c.*86G>A, NM_058197.4:c.*365G>A r.(?), r.(=) p.(Ala148Thr), p.(=)
10 Both (homozygous) ./. g.43595968A>G - RET_000120 rs1800858 - - - - - - Stevi Xera RET - NM_020630.4:c.135A>G, NM_020975.4:c.135A>G r.(=) p.(=)
10 Both (homozygous) ./. 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.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - Stevi Xera BMPR1A - NM_004329.2:c.4C>A r.(?) p.(Pro2Thr)
11 Parent #2 ./. g.22646398G>A - FANCF_000027 rs45451294 - - - - - - Stevi Xera FANCF - NM_022725.3:c.959C>T r.(?) p.(Pro320Leu)
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)
11 Parent #2 ./. g.108138003T>C - ATM_000268 rs1800056 - - - - - - Stevi Xera ATM - NM_000051.3:c.2572T>C r.(?) p.(Phe858Leu)
11 Parent #2 ./. g.108143456C>G - ATM_000264 rs1800057 - - - - - - Stevi Xera ATM - NM_000051.3:c.3161C>G r.(?) p.(Pro1054Arg)
11 Parent #2 ./. g.111957665G>A - SDHD_000014 rs34677591 - - - - - - Stevi Xera SDHD - NM_001276503.1:c.34G>A, NM_001276504.1:c.34G>A, NM_001276506.1:c.34G>A, NM_003002.3:c.34G>A r.(?) p.(Gly12Ser)
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.89837162C>T - FANCI_000113 - - - - - - - Stevi Xera FANCI - NM_001113378.1:c.2390C>T, NM_018193.2:c.2390C>T r.(?) p.(Ala797Val)
16 Parent #2 ./. g.2134448C>T - TSC2_000330 rs45517333 - - - - - - Stevi Xera TSC2 - NM_000548.3:c.4225C>T, NM_001077183.1:c.4024C>T, NM_001114382.1:c.4156C>T r.(?) p.(Arg1409Trp), p.(Arg1342Trp), p.(Arg1386Trp)
16 Parent #2 ./. g.3639139A>G - SLX4_000176 rs3810812 - - - - - - Stevi Xera SLX4 - NM_032444.2:c.4500T>C r.(=) p.(=)
16 Parent #2 ./. g.14041919G>A - ERCC4_000065 - - - - - - - Stevi Xera ERCC4 - NM_005236.2:c.2466G>A 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 Parent #2 ./. 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.66511558C>T - PRKAR1A_000034 - - - - - - - Stevi Xera PRKAR1A - NM_001276289.1:c.18C>T, NM_001276290.1:c.18C>T, NM_002734.4:c.18C>T, NM_212471.2:c.18C>T, NM_212472.2:c.18C>T r.(=) p.(=)
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)
22 Parent #2 ./. g.29091840T>C - CHEK2_000101 rs74751600 - - - - - - Stevi Xera CHEK2 - NM_001005735.1:c.1246A>G, NM_001257387.1:c.454A>G, NM_007194.3:c.1117A>G, NM_145862.2:c.1030A>G r.(?) p.(Lys416Glu), p.(Lys152Glu), p.(Lys373Glu), p.(Lys344Glu)
22 Parent #2 ./. g.29091841G>A - CHEK2_000102 rs79357544 - - - - - - Stevi Xera CHEK2 - NM_001005735.1:c.1245C>T, NM_001257387.1:c.453C>T, NM_007194.3:c.1116C>T, NM_145862.2:c.1029C>T r.(=) p.(=)
Legend