Individual #00132791

ID_report patient
Reference PubMed: Sandaradura 2018, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020
Remarks -
Gender M
Consanguinity no
Country Australia
Population Aboriginal/white;white
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases arthrogryposis
Owner name Mark Davis


Phenotypes

arthrogryposis (arthrogryposis)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000105575 distal arthrogryposis Familial, autosomal recessive - - - - - see paper; ..., distal arthrogryposis; abnormal facial shape; scoliosis; respiratory insufficiency; contractures joints upper limbs; contractures joints lower limbs - Mark Davis



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133625 DNA SEQ-NG - Custom neuromuscular gene panel - 1 Mark Davis



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     

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     
11 Both (homozygous) +/. - pathogenic (recessive) g.1956150G>A g.1934920G>A - - TNNT3_000011 effect on splicing reported generating transcripts with exon 14 skipping (ex13-15 and ex13-15b) and intron 14 retention PubMed: Sandaradura 2018, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - 0 - Mark Davis TNNT3 - - - - - 14i NM_006757.3:c.681+1G>A - r.[591_681del,681_682ins[a;681+1_682-1],681_682ins[a;681+1_?]] p.0? - - - - - - - - - - - - - - - - - - - -
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