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 13 5 2017-09-01 Medium-chain acyl-coenzyme A dehydrogenase deficiency
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 269 130 2018-06-03 Wilson
BTD biotinidase 3 p25 1 338 144 2018-06-03 deficiency, biotinidase
CLN3 ceroid-lipofuscinosis, neuronal 3 16 p12 1 548 97 2018-06-03 CLN, CLN-3
CPT1A carnitine palmitoyltransferase 1A (liver) 11 q13.2 1 18 8 2018-06-03 carnitine palmitoyltransferase I deficiency
DGUOK deoxyguanosine kinase 2 p13 1 15 11 2016-07-03 MTDPS-3
ERCC6 excision repair cross-complementing rodent repair deficiency, complementation group 6 10 q11 1 130 99 2018-06-03 ACLC, ARMD-5, COFS-1, CSB, ID, UVSS, De Sanctis-Cacchione syndrome
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 76 7 2018-06-03 MADD;GA-2B
NHLRC1 NHL repeat containing 1 6 p22.3 1 73 10 2018-06-03 epilepsy, myoclonic, of Lafora
PAH phenylalanine hydroxylase 12 q22-q24.2 1 175 144 2018-06-03 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     

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.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 g.18122275G>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 g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CPT1A ?/. - - - - - - NM_001876.3:c.823G>A - - - r.(?) p.(Ala275Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.103234270C>T g.102840492C>T - - PAH_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma PAH ?/. - - - - - - NM_000277.1:c.1223G>A - - - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.103246593G>A g.102852815G>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 g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.28497286_28498251del g.28485965_28486930del 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 g.28485965_28486930del 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 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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend