Screening #0000000023

Individual ID 00000023
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 16
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 5 3 2017-05-27 Adult hypophosphatasia, Childhood hypophosphatasia, hypophosphatasia, infantile
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
CBS cystathionine-beta-synthase 21 q22.3 1 56 8 2017-05-26 CBSD, ID
CEP290 centrosomal protein 290kDa 12 q21.33 1 188 150 2017-06-14 BBS-14, ID, JBTS-1, JBTS-5, LCA-10, MKS-4, SLSN-6
COL17A1 collagen, type XVII, alpha 1 10 q24.3 1 1 1 2017-05-27 Adult junctional epidermolysis bullosa
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 24 6 2017-09-01 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
DPYD dihydropyrimidine dehydrogenase 1 p22 1 95 20 2017-07-29 DMB-p, DPDD, ID
GBA glucosidase, beta, acid 1 q22 1 12 9 2017-09-01 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 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
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 239 67 2017-09-01 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 67 33 2017-09-01 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 2 1 2017-05-27 CSNU
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 39 5 2017-06-30 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B



Variants found

16 entries on 1 page. Showing entries 1 - 16.
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.21889760G>A - - - ALPL_000002 - - - Germline - - - - - Gerard C.P. Schaafsma ALPL, PRKAR1A +?/+? - - - - - - 11 NM_000478.3:c.455G>A, NM_002734.4:c.1102C>T - - - r.(?), r.(1102c>u) p.(Arg152His), p.(Arg368*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.97981395T>C - - - DPYD_000001 - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - - NM_000110.3:c.1627A>G - - - r.(?) p.(Ile543Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.98165091T>C - - - DPYD_000002 - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - - NM_000110.3:c.496A>G - - - r.(?) p.(Met166Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.155205634T>C - - - GBA_000005 - - - Germline - - - - - Gerard C.P. Schaafsma GBA ?/. - - - - - - - NM_000157.3:c.1226A>G - - - r.(?) p.(Asn409Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.44513202T>C - - - SLC3A1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma SLC3A1 ?/. - - - - - - - NM_000341.3:c.797T>C - - - r.(?) p.(Phe266Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.149361221A>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 - - - NHLRC1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.32007849G>C - - - CYP21A2_000001 - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - - 7 NM_000500.7:c.806G>C - - - r.(?) p.(Ser269Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
10 Unknown g.105798263C>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 - - - CEP290_000144 - - - Germline - - - 0 - Gerard C.P. Schaafsma CEP290 +?/. - - - - - - 17 NM_025114.3:c.1657del - - - r.(?) p.(Ile556Phefs*17) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.94844843T>G - - - SERPINA1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.1200A>C - - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend