Individual #00000040

ID_report -
Reference PubMed: Bell 2011
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases -
Owner name LOVD-team, but with Curator vacancy


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000040 DNA SEQ-NG - - ATP7A, DPYD, GLB1, LAMA2 4 LOVD-team, but with Curator vacancy



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A, SAMHD1 - - - - - 11, 12 NM_000110.3:c.1627A>G, NM_002734.4:c.1102C>T, NM_015474.3:c.1343T>C - - r.(?) p.(Ile543Val), p.(Arg368*), p.(Ile448Thr) - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. 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.(=) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. g.129635800G>A g.129314655G>A - - LAMA2_000064 - PubMed: Bell 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma LAMA2 - - - - - 24 NM_000426.3:c.3412G>A - - r.(?) p.(Val1138Met) - - - - - - - - - - - - - - - - - - -
X Unknown ?/. g.77244775_77244779del - chrX:77131431_77131435delATCTT - ATP7A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7A - - - - - - NM_000052.4:c.657_661del, NM_000052.5:c.657_661del - - r.(?) p.(Ile220Serfs*9) - - - - - - - - - - - - - - - - - - -
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