View individual #00001278

Ethnic origin Spanish-Argentinian
Reference -
Panel size 1
Diseases -
Owner name Silvina Sisterna-Hospital Privado


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001517 DNA SEQ-NG IACA CNV analysis of BRCA1, BRCA2, PALB2, RAD51D, RAD51C and TP53 26-sep-2018 Multigenetic panel ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FANCC, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 24 Silvina Sisterna-Hospital Privado



Variants

24 entries on 1 page. Showing entries 1 - 24.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

Owner     

Gene     

Effect     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
8 Unknown g.89946194T>C - NBN_000011 Silvina Sisterna-Hospital Privado NBN -/- 13 NM_002485.4:c.2016A>G p.(=) Hetero no r.(=) -
8 Unknown g.89955483A>G - NBN_000009 Silvina Sisterna-Hospital Privado NBN -/- 10 NM_002485.4:c.1197T>C p.(=) Hetero no r.(=) -
8 Unknown g.89978251C>G - NBN_000007 Silvina Sisterna-Hospital Privado NBN -/- 5 NM_002485.4:c.553G>C p.(Glu185Gln) Hetero no r.(?) -
8 Unknown g.89982791C>T - NBN_000006 Silvina Sisterna-Hospital Privado NBN -/- 2 NM_002485.4:c.102G>A p.(=) Hetero no r.(=) -
11 Unknown g.108312440G>A - ATM_000004 Silvina Sisterna-Hospital Privado ATM -/- 40 NM_000051.3:c.5948G>A p.(Ser1983Asn) Homo no r.(?) -
11 Unknown g.108326224C>T - ATM_000061 Silvina Sisterna-Hospital Privado ATM ?/? 47 NM_000051.3:c.6974C>T p.(Ala2325Val) Hetero no r.(?) -
13 Unknown g.32337751A>G - BRCA2_000021 Silvina Sisterna-Hospital Privado BRCA2 -/- 11 NM_000059.3:c.3396A>G p.(=) Hetero no r.(=) -
13 Unknown g.32338162T>C - BRCA2_000001 Silvina Sisterna-Hospital Privado BRCA2 -/- 11 NM_000059.3:c.3807T>C p.(=) Hetero no r.(=) -
13 Unknown g.32338613G>T - BRCA2_000070 Silvina Sisterna-Hospital Privado BRCA2 -/- 11 NM_000059.3:c.4258G>T p.(Asp1420Tyr) Hetero no r.(?) -
13 Unknown g.32338918A>G - BRCA2_000010 Silvina Sisterna-Hospital Privado BRCA2 -/- 11 NM_000059.3:c.4563A>G p.(=) Homo no r.(=) -
13 Unknown g.32340868G>C - BRCA2_000036 Silvina Sisterna-Hospital Privado BRCA2 -/- 11 NM_000059.3:c.6513G>C p.(=) Homo no r.(=) -
13 Unknown g.32355250T>C - BRCA2_000012 Silvina Sisterna-Hospital Privado BRCA2 -/- 14 NM_000059.3:c.7397T>C p.(Val2466Ala) Homo no r.(?) -
16 Unknown g.68823538T>C - CDH1_000001 Silvina Sisterna-Hospital Privado CDH1 -/- 13 NM_004360.3:c.2076T>C p.(=) Hetero no r.(=) -
17 Unknown g.7676154G>C - TP53_000001 Silvina Sisterna-Hospital Privado TP53 -/- 4 NM_000546.5:c.215C>G p.(Pro72Arg) Hetero no r.(?) -
17 Unknown g.43071077T>C - BRCA1_000009 Silvina Sisterna-Hospital Privado BRCA1 -/- 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Homo no r.(?) rs1799966
17 Unknown g.43082453A>G - BRCA1_000008 Silvina Sisterna-Hospital Privado BRCA1 -/- 13 NM_007294.3:c.4308T>C p.(=) Homo no r.(=) -
17 Unknown g.43091983T>C - BRCA1_000007 Silvina Sisterna-Hospital Privado BRCA1 -/- 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Homo no r.(?) -
17 Unknown g.43092418T>C - BRCA1_000006 Silvina Sisterna-Hospital Privado BRCA1 -/- 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Homo no r.(?) -
17 Unknown g.43092919G>A - BRCA1_000004 Silvina Sisterna-Hospital Privado BRCA1 -/- 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Homo no r.(?) -
17 Unknown g.43093220A>G - BRCA1_000003 Silvina Sisterna-Hospital Privado BRCA1 -/- 11 NM_007294.3:c.2311T>C p.(=) Homo no r.(=) -
17 Unknown g.43093449G>A - BRCA1_000002 Silvina Sisterna-Hospital Privado BRCA1 -/- 11 NM_007294.3:c.2082C>T p.(=) Homo no r.(=) -
17 Unknown g.61683635A>G - BRIP1_000003 Silvina Sisterna-Hospital Privado BRIP1 -/-? 20 NM_032043.2:c.3411T>C p.(=) Hetero no r.(=) -
17 Unknown g.61685986A>G - BRIP1_000002 Silvina Sisterna-Hospital Privado BRIP1 -/-? 19 NM_032043.2:c.2755T>C p.(Ser919Pro) Hetero no r.(?) -
17 Unknown g.61686104T>C - BRIP1_000001 Silvina Sisterna-Hospital Privado BRIP1 -/-? 19 NM_032043.2:c.2637A>G p.(=) Hetero no r.(=) -
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