Individual #00377145

ID_report Huashan DYNC1H1-002
Reference -
Remarks -
Gender F
Consanguinity no
Country China
Population Han
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CMT2O
Owner name Xiangjun Chen
Database submission license No license selected
Created by Xiangjun Chen
Date created 2021-07-12 08:32:59 +02:00 (CEST)
Date last edited 2021-07-21 14:21:34 +02:00 (CEST)


Phenotypes

Charcot-Marie-Tooth disease, axonal, type 2O (CMT2O) (CMT2O)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000272309 distal amyotrophy (HP:0003693); muscle weakness (HP:0001324); motor delay (HP:0001270); pes cavus (HP:0001761); no intellectual disability (-HP:0001249) - CMT 2O Familial, autosomal dominant 14y 14y - - - Xiangjun Chen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000378350 DNA SEQ-NG blood - - 1 Xiangjun Chen



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     

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Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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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     
14 Unknown +/. ACMG pathogenic (dominant) g.102452354C>T g.101986017C>T g.21490C>T - DYNC1H1_000245 - - - - De novo - - - - - Xiangjun Chen DYNC1H1 - - - - 8 NM_001376.4:c.1792C>T - r.(?) p.(Arg598Cys) - - - - - - - - - - - - - -
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