Individual #00004111

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country Denmark
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases GTS
Owner name Birgitte Bertelsen


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004035 DNA arrayCNV;PCRq - - IMMP2L 1 Birgitte Bertelsen



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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     
7 Unknown ?/. g.111029575_111079376del g.111389519_111439320del - - IMMP2L_000005 - PubMed: Bertelsen 2014 - - Unknown - - - 0 - Birgitte Bertelsen IMMP2L - - - - - 3i NM_032549.3:c.239+47918_239+97719del - - r.(?) p.? - - - - - - - - - - - - - - - - - - -
Legend