Screening #0000000012

Individual ID 00000012
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 19
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 14 14 2017-10-28 ACADVLD
ADA adenosine deaminase 20 q13.12 1 24 10 2018-01-13 Severe combined immunodeficiency due to ADA deficiency
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1 p21 1 8 7 2018-01-05 GSD-3
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 115 19 2017-10-24 Wilson
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 25 7 2017-10-24 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
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
GBA glucosidase, beta, acid 1 q22 1 18 12 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 1 136 55 2017-08-04 MPS-3C, RP-73
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 69 23 2017-09-01 CMT-2S, DSMA-1
LAMA2 laminin, alpha 2 6 q22-q23 1 1208 487 2018-01-13 all-in-one, 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 2017-10-24 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
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

19 entries on 1 page. Showing entries 1 - 19.
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.97981395T>C g.97515839T>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.155206060C>T g.155236269C>T - - GBA_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma GBA ?/. - - - - - - NM_000157.3:c.1200G>A - - - r.(?) p.(Met400Ile) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.32008862G>T g.32041085G>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 g.129314655G>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 g.43197696A>C - - HGSNAT_000023 - - - - Germline - - - - - Gerard C.P. Schaafsma HGSNAT ?/. - - - - - - NM_152419.2:c.1567A>C - - - r.(?) p.(Lys523Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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 Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A ?/. - - - - - - NM_000259.3:c.3736C>T - - - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.7127707G>A g.7224388G>A - - ACADVL_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma ACADVL ./. - - - - - - NM_000018.3:c.1600G>A - - - r.(?) p.(Glu534Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36330277C>G g.35839375C>G - - NPHS1_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.2971G>C - - - r.(?) p.(Val991Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.41495755T>C g.40989850T>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 g.40990556T>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 g.40990556T>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 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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Unknown g.43251253G>A g.44622612G>A - - ADA_000026 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - NM_000022.2:c.821C>T - - - r.(?) p.(Pro274Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Unknown g.43255233G>A g.44626592G>A - - ADA_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - NM_000022.2:c.226C>T - - - r.(?) p.(Arg76Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend