Individual #00210053

ID_report VF
Reference PubMed: Vadgama 2019, Journal: Vadgama 2019
Remarks -
Gender F
Consanguinity no
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases neuropsthy (CCT5)
Owner name Nirmal Vadgama


Phenotypes

neuropathy, sensory, with spastic paraplegia, hereditary, autosomal recessive (neuropsthy (CCT5))   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000158627 - - - Unknown - 34y - - - Nirmal Vadgama



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211111 DNA arrayCNV Blood Microarray - 1 Nirmal Vadgama
0000211112 DNA SEQ-NG Blood WES - 1 Nirmal Vadgama



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend  

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
2 Unknown +?/. - likely pathogenic g.(?_40447587)_(40509154_?)del - - - chr2_009510 - PubMed: Vadgama 2019, Journal: Vadgama 2019 - - Germline - - - - - Nirmal Vadgama - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown +?/. - likely pathogenic g.3834902C>T g.3834904C>T - - ZFR2_000001 - PubMed: Vadgama 2019, Journal: Vadgama 2019 - - Germline - - - 0 - Nirmal Vadgama ZFR2 - - - - - - NM_015174.1:c.133G>A - r.(?) p.(Val45Met) - - - - - - - - - - - - - - - - - - - -
Legend