Individual #00265256

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country Spain
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ACADVLD
Owner name Jorge Docampo Cordeiro
Database submission license No license selected
Created by Jorge Docampo Cordeiro
Date created 2019-09-18 10:42:37 +02:00 (CEST)
Date last edited 2019-09-30 16:10:02 +02:00 (CEST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000266375 DNA SEQ-NG-IT - - ACADVL 2 Jorge Docampo Cordeiro



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     

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     
17 Maternal (inferred) +?/. - likely pathogenic g.7124899G>A g.7221580G>A - - ACADVL_000038 inferred in trans with c.1345G>C - ClinVar-RCV000179696.6 - Germline - - - - - Jorge Docampo Cordeiro ACADVL - - - - - NM_000018.3:c.520G>A - r.(?) p.(Val174Met) - - - - - - - - - - - - - -
17 Paternal (inferred) +?/. - likely pathogenic g.7127299G>C g.7223980G>C - - ACADVL_000039 inferred in trans with c.520G>A - ClinVar-RCV000077904.4 - Germline - - - - - Jorge Docampo Cordeiro ACADVL - - - - - NM_000018.3:c.1345G>C - r.(?) p.(Glu449Gln) - - - - - - - - - - - - - -
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