Individual #00173710

ID_report SSR4-var3
Reference Shvetsova, submitted
Remarks RNAseq trio analysis
Gender F
Consanguinity no
Country Netherlands
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 9
Diseases Healthy/Control
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174599 DNA;RNA RT-PCR;SEQ;SEQ-NG blood - SSR4 2 Johan den Dunnen



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     

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     
X Parent #2 -/. - benign g.153061775= g.153796320= - - SSR4_000015 bi-allelic expression observed, gene escapes X-inactivation (9 informative cases) Shvetsova, submitted - - Germline - - - 0 - Johan den Dunnen SSR4 - - - - - 1i NM_006280.2:c.68-114= - r.= p.= - - - - - - - - - - - - - - - - - - - -
X Parent #1 -?/. - likely benign g.153061775A>G g.153796320A>G ENSG00000180879: ... - SSR4_000014 bi-allelic expression observed, gene escapes X-inactivation (9 informative cases) Shvetsova, submitted - rs2239714 Germline - - - 0 - Johan den Dunnen SSR4 - - - - - 1i NM_006280.2:c.68-114A>G - r.= p.= - - - - - - - - - - - - - - - - - - - -
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