Screening #0000000015

Individual ID 00000015
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 15
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ALG6 asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) 1 p31.3 1 6 2 2017-06-30 CDG-1C, ID
ARSB arylsulfatase B 5 p11-q13 1 11 3 2017-09-01 MPS-6
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 2 q33-q34 1 4 3 2017-07-25 PPH-1, Pulmonary veno-occlusive disease
DPYD dihydropyrimidine dehydrogenase 1 p22 1 95 20 2017-07-29 DMB-p, DPDD, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 70 3 2017-09-01 MADD;GA-2B
GALC galactosylceramidase 14 q31 1 15 4 2017-09-27 Galactosylceramide beta-galactosidase deficiency
GLB1 galactosidase, beta 1 3 p22.3 1 75 5 2017-09-01 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
NHLRC1 NHL repeat containing 1 6 p22.3 1 61 1 2017-09-01 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 234 146 2017-09-01 NPHS, NPHS-1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 239 67 2017-09-01 AATD, COPD
TGM1 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) 14 q11.2 1 156 69 2016-06-29 ARCI-1, ARCI-2



Variants found

15 entries on 1 page. Showing entries 1 - 15.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

Domain     

IDbase Accession Number     

VariO Annotation DNA level     

VariO Annotation protein level     

VariO Annotation RNA level     

Exon     

DNA change (cDNA)     

Haplotype     

Class.     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type     

Conservation     

CpG     

DB CrossRef     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
1 Unknown g.63872032T>C - - - ALG6_000005 - - - Germline - - - 0 - Gerard C.P. Schaafsma ALG6, PRKAR1A +?/+? - - - - - - 6, 9 NM_013339.3:c.391T>C, NM_002734.4:c.879C>G - - - r.(?), r.(879c>g) p.(Tyr131His), p.(Phe293Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.98165091T>C - - - DPYD_000002 - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - - NM_000110.3:c.496A>G - - - r.(?) p.(Met166Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.203420712G>A - - - BMPR2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma BMPR2 ?/. - - - - - - 12 NM_001204.6:c.2324G>A - - - r.(?) p.(Ser775Asn) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.33138549G>A - - - GLB1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma GLB1, TMPPE ./. - - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - - - r.(?), p.(Pro10Leu), - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.78135241C>T - - - ARSB_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ARSB ?/. - - - - - - - NM_000046.3:c.1151G>A - - - r.(?) p.(Ser384Asn) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.18122506G>A - - - NHLRC1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.52515354A>G - - - ATP7B_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.88450770G>A - - - GALC_000001 - - - Germline - - - - - Gerard C.P. Schaafsma GALC ./. - - - - - - 5 NM_000153.3:c.550C>T - - - r.(?) p.(Arg184Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Both (homozygous) g.94847415A>G - - - SERPINA1_000002 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.710T>C - - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
15 Unknown g.35082659T>C - - - ACTC1_000009 expression cloning yeast; threefold reduced alpha-actinin binding PubMed: Wong 2001 - In vitro (cloned) - - - 0 - Johan den Dunnen ACTC1 +/. - - - - - - 7 NM_005159.4:c.1088A>G - - - - p.Glu363Gly - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.349G>A - - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.41512841G>T - 15631G>T - CYP2B6_000060 reference allele CYP2B6*6B - rs3745274 Germline - - - 0 - Johan den Dunnen CYP2B6 ?/. - - - - - - 4 NM_000767.4:c.516G>T CYP2B6*6B - - r.(=) p.(Gln172His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.41512841G>T - 15631G>T - CYP2B6_000060 reference allele CYP2B6*6C - rs3745274 Germline - - - 0 - Johan den Dunnen CYP2B6 ?/. - - - - - - 4 NM_000767.4:c.516G>T CYP2B6*6C - - r.(=) p.(Gln172His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.41522715C>T - 25505C>T - CYP2B6_000050 reference allele CYP2B6*7B - rs3211371 Germline - - - 0 - Johan den Dunnen CYP2B6 ?/. - - - - - - 9 NM_000767.4:c.1459C>T CYP2B6*7B - - r.(=) p.(Arg487Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) g.51850290G>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