Screening #0000000054

Individual ID 00000054
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 13
Owner name Global Variome, with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ATM ataxia telangiectasia mutated 11 q22-q23 1 3131 1520 2020-09-15 AT, cancer, breast, familial
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
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 86 17 2020-09-15 MADD
GALC galactosylceramidase 14 q31 1 150 87 2020-09-15 Krabbe
GLB1 galactosidase, beta 1 3 p22.3 1 221 101 2020-08-30 gangliosidosis, gangliosidosis-I, gangliosidosis-II, gangliosidosis-III, MPS4B
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 12 q23.3 1 342 315 2020-09-15 ML, ML-2;ICD, ML-3
LAMA2 laminin, alpha 2 6 q22-q23 1 2064 653 2020-09-15 ID, LGMDR-23, MDC, MDC-1A
LAMA3 laminin, alpha 3 18 q11.2 1 52 50 2020-07-14 LOCS, epidermolysis bullosa, junctional, Herlitz type, epidermolysis bullosa, junctional, non-Herlitz type
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
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

13 entries on 1 page. Showing entries 1 - 13.
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.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD - - - - - - NM_000110.3:c.1601G>A - r.(?) p.(Ser534Asn) - - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. - 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.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 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) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - Gerard C.P. Schaafsma LAMA2 - - - - - 24 NM_000426.3:c.3412G>A - r.(?) p.(Val1138Met) - - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. - VUS g.108098576C>G g.108227849C>G - - ATM_000007 - - - - Germline - - - - - Gerard C.P. Schaafsma ATM, HTT - - - - - 2i NM_000051.3:c.146C>G, NM_002111.6:c.348-2680C>G - r.(?) p.(Ser49Cys), p.(=) - - - - - - - - - - - - - - - - - - - -
12 Unknown +/. - pathogenic g.102163960G>A g.101770182G>A - - GNPTAB_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma GNPTAB - - - - - 10 NM_024312.4:c.1123C>T - r.(?) p.(Arg375*) - - - - - - - - - - - - - - - - - - - -
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.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma GALC - - - - - 5 NM_000153.3:c.550C>T - r.(?) p.(Arg184Cys) - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - -
18 Unknown ?/. - VUS g.21513888C>T g.23933924C>T - - LAMA3_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma LAMA3 - - - - - - NM_198129.1:c.8851C>T - r.(?) p.(Arg2951Cys) - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - -
Legend