Individual #00000150

Reference A A Yusoff et al. (2004)
Gender ?
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases Gliomas
Owner name Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud


Phenotypes

Gliomas (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000063 - - Nuur Athirah Binti Mohd Daud



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000165 DNA PCR;SSCA TP53 12 Nuur Athirah Binti Mohd Daud



Variants

12 entries on 1 page. Showing entries 1 - 12.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
17 Unknown +/. g.7673800_7673803del CTGG, 4 bp-deletion A A Yusoff et al. (2004) TP53_000045 rs1564752665 1/47 - Nuur Athirah Binti Mohd Daud TP53 8 NM_000546.5:c.817_820del - r.(?) p.(Arg273Phefs*71) - -
17 Unknown ./. g.7673811A>G F270S A A Yusoff et al. (2004), dbSNP, ClinVar TP53_000044 rs1057519986 1/47 - Nuur Athirah Binti Mohd Daud TP53 8 NM_000546.5:c.809T>C - r.(?) p.(Phe270Ser) - ClinVar
17 Unknown +/. g.7673822T>G G266G A A Yusoff et al. (2004) TP53_000037 rs756044708 1/47 - Nuur Athirah Binti Mohd Daud TP53 8 NM_000546.5:c.798A>C - r.(=) p.(=) - -
17 Unknown +/. g.7673826A>C L265R A A Yusoff et al. (2004) TP53_000038 rs104895316 1/47 - Nuur Athirah Binti Mohd Daud TP53 8 NM_000546.5:c.794T>G - r.(?) p.(Leu265Arg) - -
17 Unknown ?/. g.7674217C>T R249K A A Yusoff et al. (2004), dbSNP, ClinVar TP53_000041 rs587782329 1/47 - Nuur Athirah Binti Mohd Daud TP53 7 NM_000546.5:c.746G>A - r.(?) p.(Arg249Lys) - ClinVar
17 Unknown +?/. g.7674226A>T M246K A A Yusoff et al. (2004)dbSNP TP53_000035 rs587780074 1/47 - Nuur Athirah Binti Mohd Daud TP53 7 NM_000546.5:c.737T>A - r.(?) p.(Met246Lys) - ClinVar
17 Unknown +/. g.7674270G>C T231T A A Yusoff et al. (2004) TP53_000040 rs1570499154 1/47 - Nuur Athirah Binti Mohd Daud TP53 7 NM_000546.5:c.693C>G - r.(=) p.(=) - -
17 Unknown +/. g.7674280T>G D228A A A Yusoff et al. (2004) TP53_000046 rs879254642 1/47 - Nuur Athirah Binti Mohd Daud TP53 7 NM_000546.5:c.683A>C - r.(?) p.(Asp228Ala) - -
17 Unknown ./. g.7674893C>G R213P A A Yusoff et al. (2004), dbSNP, ClinVar TP53_000043 rs587778720 1/47 - Nuur Athirah Binti Mohd Daud TP53 6 NM_000546.5:c.638G>C - r.(?) p.(Arg213Pro) - ClinVar
17 Unknown +/. g.7674940_7674941delinsGG V197A A A Yusoff et al. (2004) TP53_000036 - 1/47 - Nuur Athirah Binti Mohd Daud TP53 6 NM_000546.5:c.590_591delinsCC - r.(?) p.(Val197Ala) - -
17 Unknown ?/. g.7674942C>A V197L A A Yusoff et al. (2004)dbSNP TP53_000039 rs786204041 1/47 - Nuur Athirah Binti Mohd Daud TP53 6 NM_000546.5:c.589G>T - r.(?) p.(Val197Leu) - ClinVar
17 Unknown +/. g.7674945G>A R196* A A Yusoff et al. (2004), dbSNP, ClinVar TP53_000042 rs397516435 1/47 - Nuur Athirah Binti Mohd Daud TP53 6 NM_000546.5:c.586C>T - r.(?) p.(Arg196*) - ClinVar
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