Screening #0000000012

Individual ID 00000012
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 20
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ACADVL acyl-CoA dehydrogenase, very long chain 17 p13.1 1 13 13 2017-09-09 Very long chain acyl-CoA dehydrogenase deficiency
ADA adenosine deaminase 20 q13.12 1 23 9 2017-09-01 Severe combined immunodeficiency due to ADA deficiency
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1 p21 1 9 7 2017-08-07 GSD-3
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
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
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 70 3 2017-09-01 MADD;GA-2B
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
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 8 p11.1 1 133 54 2017-08-04 MPS-3C, RP-73
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 65 21 2017-09-01 CMT-2S, DSMA-1
LAMA2 laminin, alpha 2 6 q22-q23 1 1209 487 2017-10-19 ID, MDC-1A
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 31 2 2017-07-25 ID, Griscelli syndrome, type 1
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
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



Variants found

20 entries on 1 page. Showing entries 1 - 20.
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.97981395T>C - - - DPYD_000001 - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A, SAMHD1 +?/+? - - - - - - 11, 10 NM_000110.3:c.1627A>G, NM_002734.4:c.1102C>T, NM_015474.3:c.1106T>C - - - r.(?) p.(Ile543Val), p.(Arg368*), p.(Leu369Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.100327088A>G - - - AGL_000016 - - - Germline - - - 0 - Gerard C.P. Schaafsma AGL, ATXN10, PRKAR1A +/. - - - - - - 3, 9i, 5i NM_000642.2:c.112A>G, NM_013236.3:c.1174-11604ATTCT[(800_4500)], NM_002734.4:c.503-2A>T - - - r.(?), r.?, r.spl p.(Thr38Ala), p.? - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.155206060C>T - - - GBA_000001 - - - Germline - - - - - Gerard C.P. Schaafsma GBA ?/. - - - - - - - NM_000157.3:c.1200G>A - - - r.(?) p.(Met400Ile) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.32008862G>T - - - CYP21A2_000003 - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - - 10 NM_000500.7:c.1439G>T - - - r.(?) p.(Arg480Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) g.129635800G>A - - - LAMA2_000064 - - - Germline - - - 0 - Gerard C.P. Schaafsma LAMA2 ?/. - - - - - - 24 NM_000426.3:c.3412G>A - - - r.(?) p.(Val1138Met) - - - - - - - - - - - - - - - - - - - - - - - - - - -
8 Unknown g.43052839A>C - - - HGSNAT_000023 - - - Germline - - - - - Gerard C.P. Schaafsma HGSNAT ?/. - - - - - - - NM_152419.2:c.1567A>C - - - r.(?) p.(Lys523Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.68705674C>A - - - IGHMBP2_000003 - - - Germline - - - 0 - Gerard C.P. Schaafsma IGHMBP2 ?/. - - - - - - 14 NM_002180.2:c.2636C>A - - - r.(?) p.(Thr879Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.52515354A>G - - - ATP7B_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.52643564G>A - - - MYO5A_000001 - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A ?/. - - - - - - - NM_000259.3:c.3736C>T - - - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.7127707G>A - - - ACADVL_000002 - - - Germline - - - - - Gerard C.P. Schaafsma ACADVL ?/. - - - - - - - NM_000018.2:c.1600G>A - - - r.(?) p.(Glu534Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36330277C>G - - - NPHS1_000004 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.2971G>C - - - r.(?) p.(Val991Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.41495755T>C - -1456T>C - CYP2B6_000013 reference allele CYP2B6*7B - rs2054675 Germline - - - 0 - Johan den Dunnen CYP2B6 -?/. - - - - - - _1 NM_000767.4:c.-1456T>C CYP2B6*7B - - r.= p.= - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.41496461T>C - -750T>C - CYP2B6_000011 reference allele CYP2B6*4D - rs4802101 Germline - - - 0 - Johan den Dunnen CYP2B6 -?/. - - - - - - _1 NM_000767.4:c.-750T>C CYP2B6*4D - - r.= p.= - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.41496461T>C - -750T>C - CYP2B6_000011 reference allele CYP2B6*6B - rs4802101 Germline - - - 0 - Johan den Dunnen CYP2B6 -?/. - - - - - - _1 NM_000767.4:c.-750T>C CYP2B6*6B - - r.= p.= - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Unknown g.43251253G>A - - - ADA_000007 - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - - NM_000022.2:c.821C>T - - - r.(?) p.(Pro274Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Unknown g.43255233G>A - - - ADA_000005 - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - - NM_000022.2:c.226C>T - - - r.(?) p.(Arg76Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend