Individual #00095359

ID_report -
Reference PubMed: Meneret 2014
Remarks -
Gender M
Consanguinity -
Country Germany
Population Caucasian
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?, MRMV-1
Parent(s) Father
Owner name Ashley Marsh
Database submission license No license selected
Created by Ashley Marsh


Phenotypes

mirror movements, type 1 (MRMV-1, congenital) (MRMV-1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

MotorSkills     

Severity_score     

Protein     

Brain/Imaging     

Owner     
0000073759 - - - Familial, autosomal dominant - - - - Difficulties in fine bimanual activities and everyday tasks Woods & Teuber 3 (hands) - no Ashley Marsh



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095758 DNA SEQ;QMPSF Blood Quantitative Multiplex PCR of Short Fluorescent fragments DCC 1 Ashley Marsh



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     
18 Unknown +?/. - likely pathogenic g.50278709C>A g.52752339C>A - - DCC_000005 {CV:187794} PubMed: Meneret 2014 - - Germline - 0 - 0 - Ashley Marsh DCC - - - - - 2 NM_005215.3:c.377C>A - r.(?) p.(Ser126*) IgC2-1 - - - - - - - - - - - - - - - - - - -
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