Screening #0000000010

Individual ID 00000010
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
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1 p31 1 9 3 2017-09-01 Medium-chain acyl-coenzyme A dehydrogenase deficiency
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
BTD biotinidase 3 p25 1 284 122 2017-06-29 deficiency, biotinidase
CLN3 ceroid-lipofuscinosis, neuronal 3 16 p12 1 518 79 2017-08-07 CLN, CLN-3
CPT1A carnitine palmitoyltransferase 1A (liver) 11 q13.2 1 10 2 2017-09-01 carnitine palmitoyltransferase I deficiency
DGUOK deoxyguanosine kinase 2 p13 1 8 8 2016-07-03 MTDPS-3
ERCC6 excision repair cross-complementing rodent repair deficiency, complementation group 6 10 q11 1 8 6 2016-11-20 ARMD-5, cancer, lung, COFS-1, CSB, ID, UVSS, De Sanctis-Cacchione syndrome
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 70 3 2017-09-01 MADD;GA-2B
NHLRC1 NHL repeat containing 1 6 p22.3 1 61 1 2017-09-01 epilepsy, myoclonic, of Lafora
PAH phenylalanine hydroxylase 12 q22-q24.2 1 16 14 2017-07-31 PKU



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.76226846A>G - - - ACADM_000003 - - - Germline - - - - - Gerard C.P. Schaafsma ACADM ?/. - - - - - - - NM_000016.4:c.985A>G - - - r.(?) p.(Lys329Glu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.74177777A>G - - - DGUOK_000001 - - - Germline - - - - - Gerard C.P. Schaafsma DGUOK ?/. - - - - - - - NM_080916.1:c.509A>G - - - r.(?) p.(Gln170Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.15686693G>C - - - BTD_000021 - - - Germline - - - - - Gerard C.P. Schaafsma BTD ?/. - - - - - - - NM_000060.2:c.1330G>C - - - r.(?) p.(Asp444His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.18122506G>A - - - NHLRC1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
10 Unknown g.50682080G>C - - - ERCC6_000003 - - - Germline - - - - - Gerard C.P. Schaafsma ERCC6, HTT -/- - - - - - - 2i NM_000124.2:c.2591C>G, NM_002111.6:c.348-2680C= - - - r.(?) p.(Ser864*), p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.68562328C>T - - - CPT1A_000001 - - - Germline - - - - - Gerard C.P. Schaafsma CPT1A ?/. - - - - - - - NM_001876.3:c.823G>A - - - r.(?) p.(Ala275Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.103234270C>T - - - PAH_000005 - - - Germline - - - - - Gerard C.P. Schaafsma PAH ?/. - - - - - - - NM_000277.1:c.1223G>A - - - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.103246593G>A - - - PAH_000003 - PAH record 309 - Germline - - - 0 - Gerard C.P. Schaafsma PAH ?/. - - - - - - 7 NM_000277.1:c.842C>T - - - r.(?) p.(Pro281Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.52515354A>G - - - ATP7B_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.28497286_28498251del - UNDEFINED; IN VICINITY OF INTRONS 6-8, EXONS7-8, CHR16:28405752_28404787 - CLN3_000002 - - - Germline - - - - - Gerard C.P. Schaafsma CLN3 ?/. - - - - - - - NM_001042432.1:c.461-280_677+382del - - - r.(?) p.(Gly154Alafs*29) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.28497286_28498251del - INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - Germline - - - - - Gerard C.P. Schaafsma CLN3 ?/. - - - - - - - NM_001042432.1:c.461-280_677+382del - - - r.(?) p.(Gly154Alafs*29) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend