Screening #0000000063

Individual ID 00000063
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 13
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ADA adenosine deaminase 20 q13.12 1 34 17 2018-06-03 Severe combined immunodeficiency due to ADA deficiency
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 269 130 2018-06-03 Wilson
COL7A1 collagen, type VII, alpha 1 3 p21.1 1 203 180 2018-06-03 NDNC-8, RDEB, Epidermolysis bullosa pruriginosa, epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type), epidermolysis bullosa, pretibial, Generalized dominant dystrophic epidermolysis bullosa, Transient bullous dermolysis of the newborn
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 76 7 2018-06-03 MADD;GA-2B
GLB1 galactosidase, beta 1 3 p22.3 1 115 34 2018-06-03 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
LYST lysosomal trafficking regulator 1 q42.1-q42.2 1 96 78 2012-04-12 CHS
MEFV Mediterranean fever 16 p13.3 1 527 284 2018-06-03 FMF, FMFD
NHLRC1 NHL repeat containing 1 6 p22.3 1 73 10 2018-06-03 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 305 185 2018-06-03 NPHS, NPHS-1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1 q21-q22 1 114 89 2018-06-03 CIPA, MTC
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 261 75 2018-06-03 AATD, COPD



Variants found

13 entries on 1 page. Showing entries 1 - 13.
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     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

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_000081.2:c.9377_9389del - - - r.(?) p.(Gly3126Valfs*2) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.235993601_235993602insC - - - LYST_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma LYST ?/. - - - - - - NM_000081.2:c.116_117insG - - - r.(?) p.(Ala40Glyfs*24) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown 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.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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