Screening #0000000043

Individual ID 00000043
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 11
Owner name Global Variome, with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 426 214 2020-09-15 Wilson
DPYD dihydropyrimidine dehydrogenase 1 p22 1 200 58 2020-09-15 DMB-p, DPDD, ID
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 409 217 2020-09-15 CMT-2S, DSMA-1
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 93 58 2020-09-15 ID, Griscelli syndrome, type 1
NHLRC1 NHL repeat containing 1 6 p22.3 1 84 18 2020-09-15 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 341 201 2020-09-15 NPHS, NPHS-1
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) 20 q13.31 1 30 25 2020-09-15 deficiency, phosphoenolpyruvate carboxykinase, cytosolic
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 298 81 2020-09-15 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 108 53 2020-09-15 ACG, ACG-1B, AO-2, DTD, EDM-4



Variants found

11 entries on 1 page. Showing entries 1 - 11.
Legend  

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.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD - - - - - - NM_000110.3:c.1627A>G - r.(?) p.(Ile543Val) - - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. - VUS g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 - - - - - 3 NM_000112.3:c.2065A>T - r.(?) p.(Thr689Ser) - - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) ?/. - VUS g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 - - - - - - NM_198586.2:c.332C>T - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. - 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) - - - - - - - - - - - - - - - - - - - -
13 Unknown ?/. - VUS g.52513266T>C g.51939130T>C - - ATP7B_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B - - - - - - NM_000053.3:c.3620A>G - r.(?) p.(His1207Arg) - - - - - - - - - - - - - - - - - - - -
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.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.1200A>C - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - -
14 Unknown ?/. - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.374G>A - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. - 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.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.349G>A - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - -
Legend