Individual #00000010

ID_report -
Reference PubMed: Bell 2011
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases -
Owner name Global Variome, with Curator vacancy
Database submission license No license selected
Created by Gerard C.P. Schaafsma


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000010 DNA SEQ-NG - - ACADM, ATP7B, BTD, CLN3, CPT1A, DGUOK, ERCC6, ETFB, NHLRC1, PAH 13 Global Variome, with Curator vacancy



Variants

13 entries on 1 page. Showing entries 1 - 13.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
1 Unknown ?/. - VUS g.76226846A>G g.75761161A>G - - ACADM_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma ACADM - - - - - - NM_000016.4:c.985A>G - r.(?) p.(Lys329Glu) - - - - - - - - - - - - - - - - - - - -
2 Unknown ?/. - VUS g.74177777A>G g.73950650A>G - - DGUOK_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DGUOK - - - - - - NM_080916.1:c.509A>G - r.(?) p.(Gln170Arg) - - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. - VUS g.15686693G>C g.15645186G>C - - BTD_000021 - - - - Germline - - - - - Gerard C.P. Schaafsma BTD - - - - - - NM_000060.2:c.1330G>C - r.(?) p.(Asp444His) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS 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 ?/. - VUS g.50682080G>C g.49474034G>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 ?/. - VUS 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 ?/. - VUS 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 ?/. - VUS 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 ?/. - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B - - - - - - NM_000053.3:c.3419T>C - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - -
15 Unknown -?/-? - likely benign g.91565459C>T g.91022229C>T - - VPS33B_000214 - - - - Unknown - - - 0 - Paul Gissen VPS33B - - - - - 1 NM_018668.3:c.21G>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. - VUS 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 ?/. - VUS 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) ?/. - VUS 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) - - - - - - - - - - - - - - - - - - - -
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