Individual #00117491

ID_report -
Reference PubMed: Boycott 2007, PubMed: Huang 2011
Remarks deceased
Gender F
Consanguinity yes
Country Canada
Population Hutterite
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases JBTS14
Owner name Lijia Huang
Database submission license No license selected
Created by Lijia Huang


Phenotypes

Joubert syndrome, type 14 (JBTS-14) (JBTS14)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000092961 encephalocele; hydrocephalus; cystic kidney; cleft palate - - Familial, autosomal recessive 00d - - - - Lijia Huang



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117954 DNA SEQ - - TMEM237 1 Lijia Huang



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     

Codon change     

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/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 Both (homozygous) +/+ - pathogenic g.202505638G>A g.201640915G>A - - TMEM237_000001 not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites PubMed: Boycott 2007, PubMed: Huang 2011 - - Germline - - - 0 - Lijia Huang TMEM237 - - - - - 2 NM_001044385.2:c.52C>T - r.(?) p.(Arg18*) - - - - - - - - - - - - - - - - - - -
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