Screening #0000000044

Individual ID 00000044
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 12
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ASS1 argininosuccinate synthase 1 9 q34.1 1 188 98 2017-07-29 CTLN-1
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
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
GCDH glutaryl-CoA dehydrogenase 19 p13.2 1 410 166 2017-08-12 GA-1
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
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 2 p23 1 6 2 2017-06-30 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, mitochondrial trifunctional protein deficiency (MTPD)
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
KCNQ2 potassium voltage-gated channel, KQT-like subfamily, member 2 20 q13.33 1 72 70 2017-08-04 BFNS-1, EIEE-7, ID
MKS1 Meckel syndrome, type 1 17 q21-q24 1 35 31 2017-07-30 BBS-1, BBS-13, ID, MKS-1
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 31 2 2017-07-25 ID, Griscelli syndrome, type 1



Variants found

12 entries on 1 page. Showing entries 1 - 12.
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 ?/. - - - - - - - NM_000110.3:c.1627A>G - - - r.(?) p.(Ile543Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.98165030T>C - - - DPYD_000005 - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - - NM_000110.3:c.557A>G - - - r.(?) p.(Tyr186Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.26432662G>T - - - HADHA_000001 - - - Germline - - - - - Gerard C.P. Schaafsma HADHA ?/. - - - - - - - NM_000182.4:c.1072C>A - - - r.(?) p.(Gln358Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown 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), - - - - - - - - - - - - - - - - - - - - - - - - - - -
8 Unknown g.43052839A>C - - - HGSNAT_000023 - - - Germline - - - - - Gerard C.P. Schaafsma HGSNAT ?/. - - - - - - - NM_152419.2:c.1567A>C - - - r.(?) p.(Lys523Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.133333936G>T - - - ASS1_000071 - - - Germline - - - - - Gerard C.P. Schaafsma ASS1 ?/. - - - - - - - NM_000050.4:c.323G>T - - - r.(?) p.(Arg108Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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 Unknown g.52515354A>G - - - ATP7B_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.56290372C>A - - - MKS1_000002 - - - Unknown - - - 0 - Gerard C.P. Schaafsma MKS1 +/. - - - - - - 8 NM_017777.3:c.829G>T - - - r.(?) p.(Glu277*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) g.13007152C>T - - - GCDH_000032 - - - Germline - - - 0 - Gerard C.P. Schaafsma GCDH ?/. - - - - - - 8 NM_000159.2:c.769C>T - - - r.(?) p.(Arg257Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown 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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend