Screening #0000000023

Individual ID 00000023
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 17
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ALPL alkaline phosphatase, liver/bone/kidney 1 p36.12 1 46 27 2018-06-03 Childhood hypophosphatasia, hypophosphatasia, adult, hypophosphatasia, infantile
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 269 130 2018-06-03 Wilson
CBS cystathionine-beta-synthase 21 q22.3 1 89 31 2018-06-03 CBSD, ID
CEP290 centrosomal protein 290kDa 12 q21.33 1 388 285 2018-06-03 BBS-14, ID, JBTS-1, JBTS-5, LCA-10, MKS-4, SLSN-6
COL17A1 collagen, type XVII, alpha 1 10 q24.3 1 35 35 2018-06-03 epidermolysis bullosa, junctional, non-Herlitz type
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 255 167 2018-06-28 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
DPYD dihydropyrimidine dehydrogenase 1 p22 1 118 30 2018-06-03 DMB-p, DPDD, ID
GBA glucosidase, beta, acid 1 q22 1 44 30 2018-06-03 PD, Acute neuronopathic Gaucher's disease, Gaucher disease type 3C, Gaucher disease, perinatal lethal, Gaucher's disease, type 1, Lewy body dementia, Subacute neuronopathic Gaucher's disease
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
NHLRC1 NHL repeat containing 1 6 p22.3 1 73 10 2018-06-03 epilepsy, myoclonic, of Lafora
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 261 75 2018-06-03 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 90 42 2018-06-03 ACG-1B, AO-2, DTD, EDM-4
SLC3A1 solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 2 p16.3 1 28 26 2018-06-03 CSNU
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 90 39 2018-06-03 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B



Variants found

17 entries on 1 page. Showing entries 1 - 17.
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.21889760G>A - - - ALPL_000002 - - - - Germline - - - 0 - Johan den Dunnen ALPL ?/. - - - - - - NM_000478.4:c.455G>A - - - r.(?) p.(Arg152His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.94510164C>T - - - ABCA4_000144 expression cloning midigene splicing construct: no correctly spliced RNA PubMed: Sangermano 2018 - - In vitro (cloned) - - - 0 - Frans Cremers ABCA4 +/. - - - - - 20i NM_000350.2:c.3050+5G>A - - - r.2919_3050del p.(Leu973_His1017delinsPhe) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - NM_000110.3:c.1627A>G - - - r.(?) p.(Ile543Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma GBA ?/. - - - - - - NM_000157.3:c.1226A>G - - - r.(?) p.(Asn409Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.44513202T>C g.44286063T>C - - SLC3A1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SLC3A1 ?/. - - - - - - NM_000341.3:c.797T>C - - - r.(?) p.(Phe266Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 ?/. - - - - - 3 NM_000112.3:c.2065A>T - - - r.(?) p.(Thr689Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - 7 NM_000500.7:c.806G>C - - - r.(?) p.(Ser269Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
10 Unknown g.105798263C>T g.104038505C>T - - COL17A1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma COL17A1, HTT -/- - - - - - 2i NM_000494.3:c.2971G>A, NM_002111.6:c.348-2680C= - - - r.(?) p.(Val991Met), p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.6415434G>T - - - SMPD1_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma SMPD1 ?/. - - - - - - NM_000543.3:c.1493G>T - - - r.(?) p.(Arg498Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.6415463G>A - - - SMPD1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SMPD1 ?/. - - - - - - NM_000543.3:c.1522G>A - - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.6415769_6415772del - chr11:g.6372345_6372348delCCG - SMPD1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SMPD1 ?/. - - - - - - NM_000543.3:c.1828_1831del - - - r.(?) p.(Arg610Thrfs*2) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.88512314del g.88118537del - - CEP290_000144 - - - - Germline - - - 0 - Gerard C.P. Schaafsma CEP290 +?/. - - - - - 17 NM_025114.3:c.1657del - - - r.(?) p.(Ile556Phefs*17) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.1200A>C - - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend