Full data view for gene TP53

Information The variants shown are described using the NM_000546.5 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.215C>G r.(?) p.(Pro72Arg) Unknown - benign g.7579472G>C g.7676154G>C TP53(NM_000546.5):c.215C>G (p.P72R, p.Pro72Arg), TP53(NM_000546.6):c.215C>G (p.(Pro72Arg), p.P72R), TP53(NM_001126114.3):c.215C>G (p.P72R) - TP53_010049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.215C>G r.(?) p.(Pro72Arg) Unknown - benign g.7579472G>C g.7676154G>C TP53(NM_000546.5):c.215C>G (p.P72R, p.Pro72Arg), TP53(NM_000546.6):c.215C>G (p.(Pro72Arg), p.P72R), TP53(NM_001126114.3):c.215C>G (p.P72R) - TP53_010049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.215C>G r.(?) p.(Pro72Arg) Unknown - benign g.7579472G>C g.7676154G>C TP53(NM_000546.5):c.215C>G (p.P72R, p.Pro72Arg), TP53(NM_000546.6):c.215C>G (p.(Pro72Arg), p.P72R), TP53(NM_001126114.3):c.215C>G (p.P72R) - TP53_010049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.215C>G r.(?) p.(Pro72Arg) Unknown - benign g.7579472G>C g.7676154G>C TP53(NM_000546.5):c.215C>G (p.P72R, p.Pro72Arg), TP53(NM_000546.6):c.215C>G (p.(Pro72Arg), p.P72R), TP53(NM_001126114.3):c.215C>G (p.P72R) - TP53_010049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.215C>G r.(?) p.(Pro72Arg) Parent #1 - benign g.7579472G>C g.7676154G>C - - TP53_010049 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1042522 Germline - 1210/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1210 Yukihide Momozawa
-/. 4 c.215C>G r.(?) p.(Pro72Arg) Parent #1 - benign g.7579472G>C g.7676154G>C - - TP53_010049 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1042522 Germline - 2070/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 2070 Yukihide Momozawa
-/. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) - benign g.7579472G>C g.7676154G>C - - TP53_010049 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1042522 Germline - 2920/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 2920 Yukihide Momozawa
-/. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) - benign g.7579472G>C g.7676154G>C - - TP53_010049 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1042522 Germline - 4585/11241 controls - - - DNA SEQ - - Healthy/Control -con-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 4585 Yukihide Momozawa
-/. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) - benign g.7579472G>C g.7676154G>C - - TP53_010049 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1042522 Germline - 27/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 27 Yukihide Momozawa
-/. - c.215C>G r.(?) p.(Pro72Arg) Parent #1 - benign g.7579472G>C g.7676154G>C - - TP53_010049 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1042522 Germline - 23/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 23 Yukihide Momozawa
-/. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) - benign g.7579472G>C g.7676154G>C - - TP53_010049 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1042522 Germline - 5013/12488 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 5013 Yukihide Momozawa
-/. - c.215C>G r.(?) p.(Pro72Arg) Parent #1 - benign g.7579472G>C g.7676154G>C - - TP53_010049 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1042522 Germline - 5837/12488 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 5837 Yukihide Momozawa
+?/. 4 c.215C>G r.(?) p.(Pro72Arg) Unknown - pathogenic g.7579472G>C g.7676154G>C - - TP53_010049 - - - - Somatic - - - - - DNA SEQ meningioma - meningioma - - - M ? Croatia (Hrvatska) white 72y - - none 1 Anja Bukovac
+?/. 4 c.215C>G r.(?) p.(Pro72Arg) Unknown - pathogenic g.7579472G>C g.7676154G>C - - TP53_010049 - - - - Somatic - - - - - DNA SEQ meningioma - meningioma - - - M ? (Croatia (Hrvatska)) white 65y - - - 1 Anja Bukovac
-/. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) - benign g.7579472G>C g.7676154G>C - - TP53_010049 - - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
-/. 4 c.215C>G r.(?) p.(Pro72Arg) Unknown - benign g.7579472G>C g.7676154G>C - - TP53_010049 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina - - - - - 1 Maximiliano Zeballos
-/. 4 c.215C>G r.(?) p.(Pro72Arg) Unknown - benign g.7579472G>C g.7676154G>C - - TP53_010049 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. 4 c.215C>G r.(?) p.(Pro72Arg) Unknown - benign g.7579472G>C g.7676154G>C - - TP53_010049 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer - - - - - Argentina Argentina - - - - 1 Maximiliano Zeballos
-/. 4 c.215C>G r.(?) p.(Pro72Arg) Unknown - benign g.7579472G>C g.7676154G>C - - TP53_010049 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, colon - - - - - Argentina - - - - - 1 Maximiliano Zeballos
-/. 4 c.215C>G r.(?) p.(Pro72Arg) Unknown - benign g.7579472G>C g.7676154G>C - - TP53_010049 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, colon - - - - - Argentina Spain - - - - 1 Maximiliano Zeballos
-/. - c.215C>G r.(?) p.(Pro72Arg) Unknown - benign g.7579472G>C - TP53(NM_000546.5):c.215C>G (p.P72R, p.Pro72Arg), TP53(NM_000546.6):c.215C>G (p.(Pro72Arg), p.P72R), TP53(NM_001126114.3):c.215C>G (p.P72R) - TP53_010049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215C>G r.(?) p.(Pro72Arg) Unknown - VUS g.7579472G>C - - - TP53_010049 - - - - Unknown - - - - - DNA SEQ-NG-I - - cancer, prostate - - - - - - - - - - - 1 R Hamid
-/. - c.215C>G r.(?) p.(Pro72Arg) Unknown - benign g.7579472G>C - TP53(NM_000546.5):c.215C>G (p.P72R, p.Pro72Arg), TP53(NM_000546.6):c.215C>G (p.(Pro72Arg), p.P72R), TP53(NM_001126114.3):c.215C>G (p.P72R) - TP53_010049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.215C>G r.(?) p.(Pro72Arg) Unknown - benign g.7579472G>C - TP53(NM_000546.5):c.215C>G (p.P72R, p.Pro72Arg), TP53(NM_000546.6):c.215C>G (p.(Pro72Arg), p.P72R), TP53(NM_001126114.3):c.215C>G (p.P72R) - TP53_010049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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