Individual #00000049

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     
0000000049 DNA SEQ-NG - - ATP7B, CYP21A2, DPYD, ETFB, GALC, GLB1, IGHMBP2, LAMA2, MPL, MYO5A, NPHP4, SERPINA1, SGSH, SLC26A2 16 LOVD-team, but with Curator vacancy



Variants

16 entries on 1 page. Showing entries 1 - 16.
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     
1 Unknown g.5940243G>A - - - NPHP4_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHP4 ?/. - - - - - - NM_015102.2:c.2542C>T - - r.(?) p.(Arg848Trp) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MPL ?/. - - - - - - NM_005373.2:c.340G>A - - r.(?) p.(Val114Met) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - NM_000110.3:c.496A>G - - r.(?) p.(Met166Val) - - - - - - - - - - - - - - - - - - - - - - -
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.(=) - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.149360630C>T g.149981067C>T - - SLC26A2_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 ?/. - - - - - 3 NM_000112.3:c.1474C>T - - r.(?) p.(Arg492Trp) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.32008500G>A g.32040723G>A - - CYP21A2_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - 9 NM_000500.7:c.1174G>A - - r.(?) p.(Ala392Thr) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.129687396G>A g.129366251G>A - - LAMA2_000123 - - - - Unknown - - - 0 - Johan den Dunnen LAMA2 ?/. - - - - - 33 NM_000426.3:c.4750G>A - - r.(?) p.(Gly1584Ser) - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma IGHMBP2 ?/. - - - - - 14 NM_002180.2:c.2636C>A - - r.(?) p.(Thr879Lys) - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - NM_000053.3:c.3419T>C - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma GALC ./. - - - - - 5 NM_000153.3:c.550C>T - - r.(?) p.(Arg184Cys) - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.1200A>C - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.374G>A - - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78188529C>T g.80214730C>T - - SGSH_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma SGSH ?/. - - - - - - NM_000199.3:c.391G>A - - r.(?) p.(Val131Met) - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78190883G>C g.80217084G>C - - SGSH_000008 - - - - Germline - - - - - Gerard C.P. Schaafsma SGSH ?/. - - - - - - NM_000199.3:c.197C>G - - r.(?) p.(Ser66Trp) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
Legend