Individual #00300437

ID_report -
Reference -
Remarks -
Gender M
Consanguinity ?
Country India
Population -
Age at death 10y (10 years)
VIP -
Data_av -
Treatment IVIg
Panel size 1
Diseases neuropathy, XLA
Owner name Sneha Sawant Desai
Database submission license No license selected
Created by Sneha Sawant Desai
Date created 2020-05-03 08:43:17 +02:00 (CEST)
Date last edited 2020-05-04 11:39:54 +02:00 (CEST)


Phenotypes

neuropathy (neuropathy)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000227744 XLA XLA - Familial, X-linked recessive 10y 02y06m Upper respiratory tract infections - Sneha Sawant Desai



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000301558 DNA SEQ - - BTK 1 Sneha Sawant Desai



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
X Maternal (confirmed) +/+ - pathogenic (recessive) g.100617565del g.101362577del - - BTK_000972 - - - - Somatic - - - - - Sneha Sawant Desai BTK - DNA deletion (VariO:0141) missing protein (VariO:0240) out-of-frame deletion (VariO:0321) 6 NM_000061.2:c.505del - r.(505del) p.(Glu169Argfs*7) TH - - - - - - - - - - - - Absent
Legend   How to query  


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