Individual #00000097

ID_report -
Reference PubMed: Bell 2011
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases -
Owner name Global Variome, with Curator vacancy


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000097 DNA SEQ-NG - - ETFB, FKTN, GLB1, PAH, SERPINA1 6 Global Variome, with Curator vacancy



Variants

6 entries on 1 page. Showing entries 1 - 6.
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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     
3 Both (homozygous) ?/. - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma GLB1, TMPPE - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - r.(?), r.(=) p.(Pro10Leu), p.(=) - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/. - VUS g.108366499G>A g.105604218G>A - - FKTN_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma FKTN - - - - - 6 NM_001079802.1:c.373G>A - r.(?) p.(Gly125Ser) - - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. - VUS g.103234177C>T g.102840399C>T INTRON 12, IVS12+1G>A, CHR12:101758307G>A - PAH_000008 - - - - Germline - - - - - Gerard C.P. Schaafsma PAH - - - - - - NM_000277.1:c.1315+1G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. - VUS g.103246680C>T g.102852902C>T - - PAH_000007 - - - - Germline - - - - - Gerard C.P. Schaafsma PAH - - - - - - NM_000277.1:c.755G>A - r.(?) p.(Arg252Gln) - - - - - - - - - - - - - - - - - - - -
14 Unknown ?/. - VUS g.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.1200A>C - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. - VUS g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ETFB - - - - - - NM_001014763.1:c.734C>T, NM_001985.2:c.461C>T - r.(?) p.(Thr245Met), p.(Thr154Met) - - - - - - - - - - - - - - - - - - - -
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