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 14 6 2017-12-01 MPS-6
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 113 19 2017-10-24 Wilson
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 2 q33-q34 1 5 4 2017-07-25 PPH-1, Pulmonary veno-occlusive disease
DPYD dihydropyrimidine dehydrogenase 1 p22 1 97 22 2017-10-24 DMB-p, DPDD, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 70 3 2017-10-24 MADD;GA-2B
GALC galactosylceramidase 14 q31 1 29 14 2018-01-13 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 2017-10-24 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 2017-10-24 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     

ClinVar ID     

dbSNP ID     

Germline/Somatic/De novo     

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     

Class.     

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.63872032T>C g.63406361T>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 g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - NM_000110.3:c.496A>G - - - r.(?) p.(Met166Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.203420712G>A g.202555989G>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 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.(?), p.(Pro10Leu), - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.78135241C>T g.78839418C>T - - ARSB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ARSB ?/. - - - - - - NM_000046.3:c.1151G>A - - - r.(?) p.(Ser384Asn) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown 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 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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
15 Unknown g.35082659T>C g.34790458T>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 g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.349G>A - - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.41512841G>T g.41006936G>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 g.41006936G>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 g.41016810C>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 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