Individual #00409270

ID_report FamPatIII2
Reference PubMed: Wang 2019
Remarks granddaughter
Gender F
Consanguinity -
Country China
Population Han
Age at death -
VIP -
Data_av -
Treatment -
Panel ID 00409266
Panel size 1
Diseases HMN
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-05-06 10:54:19 +02:00 (CEST)
Date last edited N/A


Phenotypes

neuropathy, motor, distal, hereditary (HMN) (HMN)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000301387 see paper; ..., abnormal gait; distal weakness upper limbs 4, 4, 4; proximal weakness upper limbs 5, 5, 5; distal weakness lower limbs 3, 3; proximal weakness lower limbs 5, 5; muscle atrophy upper and lower limbs; hypoalgesia upper and lower limbs; tendon reflexes normal upper limbs/lost lower limbs; gait disturbance steppage; no claw hands; no pes cavus; foot drop; Charcot-Marie-Tooth examination score 6 distal hereditary motor neuropathy HMN9 Familial, autosomal dominant 19y - 16y abnormal gait - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000410534 DNA SEQ;SEQ-NG - WES - 1 Johan den Dunnen



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     

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VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
14 Paternal (confirmed) +?/. - likely pathogenic (dominant) g.100808907T>C g.100342570T>C - - WARS_000017 ACMG PM1, PM2, PP1, PP3, PP4 PubMed: Wang 2019 - - Germline - - - - - Johan den Dunnen WARS - - - - - NM_004184.3:c.941A>G - r.(?) p.(Asp314Gly) - - - - - - - - - - - - - -
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