Individual #00263903

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2019-08-30 19:56:55 +02:00 (CEST)
Date last edited 2019-08-31 15:07:52 +02:00 (CEST)


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000201810 - - Elevated serum creatine phosphokinase (HP:0003236); Rhabdomyolysis (HP:0003201) Unknown - - - - - - - Andreas Laner



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265014 DNA SEQ-NG-S - - - 3 Andreas Laner



Variants

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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     

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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
4 Unknown +?/. ACMG likely pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 ACMG grading: PS3, PM1 - - rs150518260 Germline - - - - - Andreas Laner SGCB - - - - - NM_000232.4:c.341C>T - r.(?) p.(Ser114Phe) - - - - - - - - - - - - - -
4 Unknown ?/. ACMG VUS g.52904418dup - - - SGCB_000134 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline - - - - - Andreas Laner SGCB - - - - - NM_000232.4:c.-12_8dup - r.(?) p.(Ala4Glyfs*22) - - - - - - - - - - - - - -
X Unknown ?/. ACMG VUS g.31241187C>T g.31223070C>T - - DMD_002643 - - - - Germline - - - - - Andreas Laner DMD - - - - 64 NM_004006.2:c.9338G>A - r.(?) p.(Arg3113Gln) - - - - - - - - - - - - - -
Legend   How to query