Individual #00210261

ID_report 12021217-Famc
Reference PubMed: Olson 2002
Remarks 5-generation family, 4 unaffected heterozygous carriers
Gender -
Consanguinity yes
Country United States
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 4
Diseases Healthy/Control
Owner name Johan den Dunnen


Phenotypes

Healthy individual / control (Healthy/Control)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000158827 - - - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211337 DNA SEQ - - MYL3 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

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     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

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     

Protein/Stain     

Protein level     
3 Parent #1 g.46901019C>T - G>A (Glu143Lys) - MYL3_000009 not in 300 control chromosomes PubMed: Olson 2002 - - Germline - - - 0 - Johan den Dunnen MYL3 +/. - - - - - 4 NM_000258.2:c.427G>A - pathogenic r.(?) p.(Glu143Lys) - - - - - - - - - - - - - - - - - - - - - - -
Legend