Individual #00000063

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     
0000000063 DNA SEQ-NG - - ADA, ATP7B, COL7A1, ETFB, GLB1, LYST, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1 13 LOVD-team, but with Curator vacancy



Variants

13 entries on 1 page. Showing entries 1 - 13.
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     
1 Unknown ?/. g.156848918C>T g.156879126C>T - - NTRK1_000163 - - - - Germline - - - - - Gerard C.P. Schaafsma NTRK1 - - - - - 15 NM_002529.3:c.1810C>T - - r.(?) p.(His604Tyr) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. g.235884132_235884144del - - - LYST_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma LYST - - - - - - NM_000081.3:c.9377_9389del - - r.(?) p.(Gly3126Valfs*2) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. g.235993601_235993602insC - - - LYST_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma LYST - - - - - - NM_000081.3:c.116_117insG - - r.(?) p.(Ala40Glyfs*24) - - - - - - - - - - - - - - - - - - -
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.(=) - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. g.48602254C>T g.48564821C>T - - COL7A1_000361 - - - - Germline - - - - - Gerard C.P. Schaafsma COL7A1 - - - - - 117 NM_000094.3:c.8780G>A - - r.(?) p.(Arg2927His) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HTT, NHLRC1 - - - - - 2i NM_002111.6:c.348-2680C=, NM_198586.2:c.332C>T - - r.(?) p.(=), p.(Pro111Leu) - - - - - - - - - - - - - - - - - - -
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.94844947C>T g.94378610C>T - - SERPINA1_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.1096G>A - - r.(?) p.(Glu366Lys) - - - - - - - - - - - - - - - - - - -
14 Both (homozygous) ?/. g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.710T>C - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. g.3304463C>T g.3254463C>T - - MEFV_000001 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV - - - - - 2 NM_000243.2:c.605G>A - - r.(?) p.(Arg202Gln) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.791C>G - - r.(?) p.(Pro264Arg) - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) ?/. 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) - - - - - - - - - - - - - - - - - - -
20 Unknown ?/. g.43255139A>G g.44626498A>G - - ADA_000007 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA - - - - - - NM_000022.2:c.320T>C - - r.(?) p.(Leu107Pro) - - - - - - - - - - - - - - - - - - -
Legend