Individual #00000082

ID_report -
Reference PubMed: Bell 2011
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP -
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     
0000000082 DNA SEQ-NG - - ATP7B, CPT1A, CYP21A2, ETFB, FAH, GLB1, MCOLN1, MYO5A, NHLRC1, NPC2 11 LOVD-team, but with Curator vacancy



Variants

11 entries on 1 page. Showing entries 1 - 11.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     

Non_Public     
3 Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000001 - - - - Germline - - - - - 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.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - NM_198586.2:c.332C>T - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2, HTT -/- - - - - - 7, 2i NM_000500.7:c.806G>C, NM_002111.6:c.348-2680C>G C5a - r.(?) p.(Ser269Thr), p.(=) - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CPT1A ?/. - - - - - - NM_001876.3:c.823G>A - - r.(?) p.(Ala275Thr) - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.52508989G>A g.51934853G>A - - ATP7B_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - NM_000053.3:c.4301C>T - - r.(?) p.(Thr1434Met) - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.74953134C>T g.74486431C>T - - NPC2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma NPC2 ?/. - - - - - 2 NM_006432.3:c.88G>A - - r.(?) p.(Val30Met) - - - - - - - - - - - - - - - - - - - - - - - -
15 Unknown g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A ?/. - - - - - - NM_000259.3:c.3736C>T - - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - - - - - - -
15 Unknown g.80472526C>T g.80180184C>T - - FAH_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma FAH ?/. - - - - - 12 NM_000137.2:c.1021C>T - - r.(?) p.(Arg341Trp) - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.7586625_7593057del g.7521739_7528171del EXONS 1 - 7, DEL6433BP, CHR19:7492622_7499054DEL - MCOLN1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MCOLN1 ?/. - - - - - - NM_020533.2:c.-141-u871_791del - - r.(?) p.? - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.7591645A>G g.7526759A>G INTRON 3, IVS3-2A>G, EXON4SKIP - MCOLN1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma MCOLN1 ?/. - - - - - - NM_020533.2:c.406-2A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown 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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