Individual #00133268

ID_report HK180C
Reference -
Remarks -
Gender M
Consanguinity -
Country Hong Kong
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases HCAD
Owner name Xuehan Zhuang
Database submission license No license selected
Created by Xuehan Zhuang
Date created 2017-11-15 10:12:43 +01:00 (CET)
Date last edited 2017-11-17 15:31:25 +01:00 (CET)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134105 DNA SEQ-NG-I blood - - 1 Xuehan Zhuang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA 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     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
18 Unknown +?/. - likely pathogenic g.50512872G>A g.52986502G>A - - DCC_000031 - - - - De novo - - - - - Xuehan Zhuang DCC - - - - 5i NM_005215.3:c.985+61132G>A - r.(?) p.(=) - - - - - - - - - - - - - -
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