Screening #0000000011

Individual ID 00000011
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 14
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1 p31 1 13 5 2017-09-01 Medium-chain acyl-coenzyme A dehydrogenase deficiency
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
ATR ataxia telangiectasia and Rad3 related 3 q22-q24 1 85 70 2018-06-03 ID, SCKL, SCKL-1, telangiectasia, cutaneous, and cancer syndrome, familial
DMD dystrophin X p21.2 1 16032 5039 2018-07-05 all-in-one, BMD, BMD/DMD, CMD-3B, DMD
DPYD dihydropyrimidine dehydrogenase 1 p22 1 118 30 2018-06-03 DMB-p, DPDD, ID
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
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 173 95 2018-06-03 CMT-2S, DSMA-1
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
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

14 entries on 1 page. Showing entries 1 - 14.
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.94578524C>G - - - ABCA4_000068 expression cloning midigene splicing construct: 0.343 correctly spliced RNA PubMed: Sangermano 2018 - - In vitro (cloned) - - - 0 - Frans Cremers ABCA4 +?/. - - - - - 2i NM_000350.2:c.160+5G>C - - - r.[=,67_160del,161_302delinsguaaccauagcagg] p.[(=,Ile23Alafs∗24,His55Asnfs∗63)] - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A +?/+? - - - - - 11 NM_000110.3:c.1627A>G, NM_002734.4:c.1102C>T - - - r.(?) p.(Ile543Val), p.(Arg368*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.142242921C>A g.142524079C>A - - ATR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATR ?/. - - - - - - NM_001184.3:c.4066G>T - - - r.(?) p.(Glu1356*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
10 Unknown g.89624302A>C - T26P - PTEN_000465 expression cloning in yeast and mammalian cells shows no PIP3-phosphatase activity and nuclear location, respectively Mingo et al., submitted - - In vitro (cloned) - - - 0 - Rafael Pulido PTEN +/. - - - - - 1 NM_000314.4:c.76A>C - - - - p.Thr26Pro - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma IGHMBP2 ?/. - - - - - 14 NM_002180.2:c.2636C>A - - - r.(?) p.(Thr879Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.94844866G>A g.94378529G>A - - SERPINA1_000006 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.1177C>T - - - r.(?) p.(Pro393Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown 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.35082750C>G g.34790549C>G - - ACTC1_000007 expression cloning yeast; reduced stability in circular dichroism melting, hampered ?lament formation PubMed: Wong 2001 - - In vitro (cloned) - - - 0 - Johan den Dunnen ACTC1 +/. - - - - - 7 NM_005159.4:c.997G>C - - - - p.Ala333Pro - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - NM_000022.2:c.239A>G - - - r.(?) p.(Lys80Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.(31525571_31645789)_(31792310_31838091)del - exon 51-55del, ChrX:31702000_31555711del - DMD_015155 - PubMed: Bell 2011 - - Unknown - - - 0 - Johan den Dunnen DMD +/. - - - - - 50i_55i NM_004006.2:c.(7309+1_7310-1)_(8217+1_8218-1)del - - - r.del p.fs? - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend