Individual #00000010

Individual_ID -
Reference PubMed: Bell 2011
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases -
Owner name LOVD-team, but with Curator vacancy


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000010 DNA NGS - - ACADM, ATP7B, BTD, CLN3, CPT1A, DGUOK, ERCC6, ETFB, NHLRC1, PAH 12 LOVD-team, but with Curator vacancy



Variants

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     

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.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