Screening #0000000049

Individual ID 00000049
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 16
Owner name LOVD-team, but 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 1 392 198 2019-07-05 Wilson
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 627 422 2019-07-05 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
DPYD dihydropyrimidine dehydrogenase 1 p22 1 180 49 2019-07-20 DMB-p, DPDD, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 83 14 2019-07-05 MADD
GALC galactosylceramidase 14 q31 1 134 81 2019-06-28 Krabbe
GLB1 galactosidase, beta 1 3 p22.3 1 186 77 2019-09-30 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 367 199 2019-07-05 CMT-2S, DSMA-1
LAMA2 laminin, alpha 2 6 q22-q23 1 2002 624 2019-11-06 ID, LGMDR-23, MDC, MDC-1A
MPL myeloproliferative leukemia virus oncogene 1 p34 1 26 18 2019-07-20 CAMT, myelofibrosis, THCYT-2
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 85 52 2019-07-05 ID, Griscelli syndrome, type 1
NPHP4 nephronophthisis 4 1 p36 1 200 143 2019-07-17 NPHP-4, SLSN-4
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 293 80 2019-07-28 AATD, COPD
SGSH N-sulfoglucosamine sulfohydrolase 17 q25.3 1 156 121 2019-06-28 MPS-3A
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 104 51 2019-07-05 ACG, ACG-1B, AO-2, DTD, EDM-4



Variants found

16 entries on 1 page. Showing entries 1 - 16.
Legend  

Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
1 Unknown ?/. g.5940243G>A - - - NPHP4_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHP4 - - - - - - NM_015102.4:c.2542C>T - - r.(?) p.(Arg848Trp) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. 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 ?/. 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) ?/. 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 ?/. 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 ?/. 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 ?/. 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 ?/. 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) ?/. 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 ?/. 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 ?/. 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 ?/. 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 ?/. 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 ?/. 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 ?/. 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 ?/. 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