Individual #00000014

ID_report -
Reference PubMed: Bell 2011
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases autism, BMD/DMD
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     
0000000014 DNA SEQ-NG - - ALG6, ATP7B, CFTR, DPYD, ETFB, GLB1, GNPTAB, HEXB, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, SERPINA1, SFTPB, SGSH, TSFM 22 Global Variome, with Curator vacancy
0000241243 DNA SEQ;SEQ-NG - WES - Not yet submitted Johan den Dunnen



Variants

22 entries on 1 page. Showing entries 1 - 22.
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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.5924535G>C g.5864475G>C - - NPHP4_000006 - - - - Germline - - - 0 - Gerard C.P. Schaafsma HTT, NPHP4 - - - - - 2i, NM_002111.6:c.348-2680C=, NM_015102.4:c.3859C>G - r.(?) p.(=), p.(Gln1287Glu) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma ALG6, PRKAR1A - - - - - 6, 9 NM_013339.3:c.391T>C, NM_002734.4:c.806A>G - r.(?), r.(806a>g) p.(Tyr131His), p.(Asp269Gly) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A - - - - - 11 NM_000110.3:c.1627A>G, NM_002734.4:c.1102C>T - r.(?) p.(Ile543Val), p.(Arg368*) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD - - - - - - NM_000110.3:c.496A>G - r.(?) p.(Met166Val) - - - - - - - - - - - - - - - - - - - -
2 Unknown ?/. - VUS g.85892908C>T g.85665785C>T - - SFTPB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SFTPB - - - - - - NM_198843.2:c.439G>A - r.(?) p.(Gly147Ser) - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) ?/. - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma GLB1, TMPPE - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - r.(?), r.(=) p.(Pro10Leu), p.(=) - - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. - VUS g.73992881A>G g.74697056A>G - - HEXB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HEXB - - - - - 5 NM_000521.3:c.619A>G - r.(?) p.(Ile207Val) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1, SNRNP200 - - - - - - NM_198586.2:c.332C>T, NM_014014.4:c.3572A>T - r.(?) p.(Pro111Leu), p.(Gln1191Leu) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.51612999C>A g.51748201C>A - - PKHD1_000008 - - - - Germline - - - - - Gerard C.P. Schaafsma PKHD1 - - - - - - NM_138694.3:c.9415G>T - r.(?) p.(Asp3139Tyr) - - - - - - - - - - - - - - - - - - - -
7 Unknown ?/. - VUS g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR - - - - - 11 NM_000492.3:c.1521_1523del - r.(?) p.(Phe508del) - - - - - - - - - - - - - - - - - - - -
11 Both (homozygous) ?/. - VUS g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma IGHMBP2 - - - - - 14 NM_002180.2:c.2636C>A - r.(?) p.(Thr879Lys) - - - - - - - - - - - - - - - - - - - -
11 Unknown ?/? - VUS g.118896009C>A g.119025299C>A - - SLC37A4_000011 - - - rs80356490 Unknown - - - 0 - LOVD SLC37A4 - - - - - 9 NM_001164277.1:c.1015G>T - r.(?) p.(Gly339Cys) - - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. - VUS g.58190244C>T g.57796461C>T - - TSFM_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma TSFM - - - - - 7 NM_001172696.1:c.919C>T - r.(?) p.(Gln307*) - - - - - - - - - - - - - - - - - - - -
12 Unknown +/. - pathogenic g.102159901del g.101766123del - - GNPTAB_000002 - PubMed: Bell 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma GNPTAB - - - - - 12 NM_024312.4:c.1581del - r.(?) p.(Cys528Valfs*19) - - - - - - - - - - - - - - - - - - - -
12 Unknown +/. - pathogenic g.102164858_102164859del g.101771080_101771081del - - GNPTAB_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma GNPTAB - - - - - 8 NM_024312.4:c.849_850del - r.(?) p.(Gln283Hisfs*2) - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - -
14 Unknown ?/. - VUS g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.710T>C - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - -
15 Unknown ?/. - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A - - - - - - NM_000259.3:c.3736C>T - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. - VUS g.78187614C>T g.80213815C>T - - SGSH_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SGSH - - - - - - NM_000199.3:c.734G>A - r.(?) p.(Arg245His) - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) ?/. - VUS g.36322601T>C g.35831699T>C - - NPHS1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.3230A>G - r.(?) p.(Asn1077Ser) - - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. - VUS g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.1223G>A - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - - - - - - - -
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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