Screening #0000000049

Individual ID 00000049
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 16
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 1 425 213 2020-08-13 Wilson
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 647 431 2020-08-06 adrenal hyperplasia
DPYD dihydropyrimidine dehydrogenase 1 p22 1 199 58 2020-08-06 DMB-p, DPDD, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 85 16 2020-08-06 MADD
GALC galactosylceramidase 14 q31 1 149 86 2020-08-06 Krabbe
GLB1 galactosidase, beta 1 3 p22.3 1 216 98 2020-08-06 gangliosidosis, gangliosidosis-I, gangliosidosis-II, gangliosidosis-III, MPS4B
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 403 214 2020-08-06 CMT-2S, DSMA-1
LAMA2 laminin, alpha 2 6 q22-q23 1 2054 645 2020-08-06 ID, LGMDR-23, MDC, MDC-1A
MPL myeloproliferative leukemia virus oncogene 1 p34 1 32 20 2020-08-06 CAMT, myelofibrosis, THCYT-2
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 92 58 2020-08-06 ID, Griscelli syndrome, type 1
NPHP4 nephronophthisis 4 1 p36 1 222 154 2020-08-06 NPHP-4, SLSN-4
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 297 81 2020-08-06 AATD, COPD
SGSH N-sulfoglucosamine sulfohydrolase 17 q25.3 1 170 129 2020-08-06 MPS-3A
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 107 52 2020-08-06 ACG, ACG-1B, AO-2, DTD, EDM-4



Variants found

16 entries on 1 page. Showing entries 1 - 16.
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.5940243G>A g.5880183G>A - - NPHP4_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHP4 - - - - - - NM_015102.4:c.2542C>T - r.(?) p.(Arg848Trp) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MPL - - - - - - NM_005373.2:c.340G>A - r.(?) p.(Val114Met) - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - -
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.149360630C>T g.149981067C>T - - SLC26A2_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 - - - - - 3 NM_000112.3:c.1474C>T - r.(?) p.(Arg492Trp) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.32008500G>A g.32040723G>A - - CYP21A2_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 - - - - - 9 NM_000500.7:c.1174G>A - r.(?) p.(Ala392Thr) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS g.129687396G>A g.129366251G>A - - LAMA2_000123 - - - - Unknown - - - 0 - Johan den Dunnen LAMA2 - - - - - 33 NM_000426.3:c.4750G>A - r.(?) p.(Gly1584Ser) - - - - - - - - - - - - - - - - - - - -
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 Both (homozygous) ?/. - 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.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) - - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. - VUS g.78188529C>T g.80214730C>T - - SGSH_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma SGSH - - - - - - NM_000199.3:c.391G>A - r.(?) p.(Val131Met) - - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. - VUS g.78190883G>C g.80217084G>C - - SGSH_000008 - - - - Germline - - - - - Gerard C.P. Schaafsma SGSH - - - - - - NM_000199.3:c.197C>G - r.(?) p.(Ser66Trp) - - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. - 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