Individual #00106183

ID_report -
Reference PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003
Remarks -
Gender -
Consanguinity -
Country (United States)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases NEM-3
Owner name Alan Beggs


Phenotypes

myopathy, nemaline, type 3 (NEM-3) (NEM-3)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000083998 intranuclear rods - - Isolated (sporadic) 2m - - - - Alan Beggs



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106652 DNA SEQ - - ACTA1 1 Alan Beggs



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
1 Unknown +/+ g.229568739G>A g.229432992G>A - - ACTA1_000010 - PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003 - - De novo - - - 0 - Alan Beggs ACTA1 CAC > TAC - - - - 2 NM_001100.3:c.124C>T - - r.(?) p.(His42Tyr) - - - - - - - - - - - - - - - - - - -
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