Individual #00022116

Reference -
Gender F
Geographic origin Keratea
Geographic origin -
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     
0000014186 51y - - - - Stevi Xera



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007614 DNA SEQ-NG-I 1 - 55 Stevi Xera



Variants

55 entries on 1 page. Showing entries 1 - 55.
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 Parent #2 ./. g.29451793A>C - ALK_000131 - - - - - - - Stevi Xera ALK - NM_004304.4:c.2772T>G 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.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.10106532C>T - FANCD2_000162 rs3864017 - - - - - - Stevi Xera FANCD2 - NM_001018115.1:c.2141C>T, NM_033084.3:c.2141C>T r.(?) p.(Pro714Leu)
3 Parent #2 ./. g.52442016G>A - BAP1_000065 - - - - - - - Stevi Xera BAP1 - NM_004656.3:c.333C>T r.(=) p.(=)
5 Parent #2 ./. 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.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.(=)
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.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.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 Parent #2 ./. g.64572560C>T - MEN1_000003 - - - - - - - Stevi Xera MEN1 - NM_000244.3:c.1311G>A, NM_130799.2:c.1296G>A, NM_130800.2:c.1311G>A, NM_130801.2:c.1311G>A, NM_130802.2:c.1311G>A, NM_130803.2:c.1311G>A, NM_130804.2:c.1311G>A r.(=) p.(=)
11 Parent #2 ./. g.64575505C>T - MEN1_000046 rs607969 - - - - - - Stevi Xera MEN1 - NM_000244.3:c.527G>A, NM_130799.2:c.512G>A, NM_130800.2:c.527G>A, NM_130801.2:c.527G>A, NM_130802.2:c.527G>A, NM_130803.2:c.527G>A, NM_130804.2:c.527G>A r.(?) p.(Arg176Gln), p.(Arg171Gln)
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.108201108T>G - ATM_000003 rs56399857 - - - - - - Stevi Xera ATM - NM_000051.3:c.7475T>G r.(?) p.(Leu2492Arg)
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)
14 Parent #2 ./. g.45667962G>T - FANCM_000032 - - - - - - - Stevi Xera FANCM - NM_020937.2:c.5832G>T r.(?) p.(Leu1944Phe)
14 Parent #2 ./. g.95566155C>G - DICER1_000052 - - - - - - - Stevi Xera DICER1 - NM_001195573.1:c.4168G>C, NM_001271282.1:c.4168G>C, NM_030621.3:c.4168G>C, NM_177438.2:c.4168G>C r.(?) p.(Asp1390His)
16 Parent #2 ./. g.2103372C>T - TSC2_000039 rs45517098 - - - - - - Stevi Xera TSC2 - NM_000548.3:c.255C>T, NM_001077183.1:c.255C>T, NM_001114382.1:c.255C>T r.(=) p.(=)
16 Parent #2 ./. g.2138086C>A - TSC2_000033 rs45483700 - - - - - - Stevi Xera TSC2 - NM_000548.3:c.5106C>A, NM_001077183.1:c.4905C>A, NM_001114382.1:c.5037C>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.29553607T>C - NF1_000345 - - - - - - - Stevi Xera NF1 - NM_000267.3:c.2156T>C, NM_001042492.2:c.2156T>C, NM_001128147.2:c.*4599T>C - -
17 Parent #2 ./. g.29553637A>G - NF1_000347 - - - - - - - Stevi Xera NF1 - NM_000267.3:c.2186A>G, NM_001042492.2:c.2186A>G, NM_001128147.2:c.*4629A>G - -
17 Parent #2 ./. g.29553655A>C - NF1_000179 - - - - - - - Stevi Xera NF1 - NM_000267.3:c.2204A>C, NM_001042492.2:c.2204A>C, NM_001128147.2:c.*4647A>C - -
17 Parent #2 ./. g.29553690A>G - NF1_000131 - - - - - - - Stevi Xera NF1 - NM_000267.3:c.2239A>G, NM_001042492.2:c.2239A>G, NM_001128147.2:c.*4682A>G - -
17 Parent #2 ./. g.29556201C>G - NF1_000006 - - - - - - - Stevi Xera NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G - -
17 Parent #2 ./. g.29556232A>G - NF1_000356 - - - - - - - Stevi Xera NF1 - NM_000267.3:c.2599A>G, NM_001042492.2:c.2599A>G - -
17 Parent #2 ./. g.29556279T>C - NF1_000320 - - - - - - - Stevi Xera NF1 - NM_000267.3:c.2646T>C, NM_001042492.2:c.2646T>C - -
17 Parent #2 ./. g.29556350A>T - NF1_000348 - - - - - - - Stevi Xera NF1 - NM_000267.3:c.2717A>T, NM_001042492.2:c.2717A>T - -
17 Parent #2 ./. g.29556383T>A - NF1_000238 - - - - - - - Stevi Xera NF1 - NM_000267.3:c.2750T>A, NM_001042492.2:c.2750T>A - -
17 Parent #2 ./. g.29556390T>C - NF1_000330 - - - - - - - Stevi Xera NF1 - NM_000267.3:c.2757T>C, NM_001042492.2:c.2757T>C - -
17 Parent #2 ./. g.29556475C>T - NF1_000331 - - - - - - - Stevi Xera NF1 - NM_000267.3:c.2842C>T, NM_001042492.2:c.2842C>T - -
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