Screening #0000000062

Individual ID 00000062
Template DNA
Technique NGS
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
AGXT alanine-glyoxylate aminotransferase 2 q37.3 1 7 4 2017-05-26 HP-1
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
CLN3 ceroid-lipofuscinosis, neuronal 3 16 p12 1 518 79 2017-08-07 CLN, CLN-3
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 24 6 2017-09-01 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 70 3 2017-09-01 MADD;GA-2B
GALC galactosylceramidase 14 q31 1 15 4 2017-09-27 Galactosylceramide beta-galactosidase deficiency
GALT galactose-1-phosphate uridylyltransferase 9 p13 1 5 5 2017-09-01 ID, galactosemia (galactose-1-phosphate uridylyltransferase deficiency)
GLB1 galactosidase, beta 1 3 p22.3 1 75 5 2017-09-01 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
HSPG2 heparan sulfate proteoglycan 2 1 p36.1-p35 1 10 9 2017-10-22 DDSH, SJS-1
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 65 21 2017-09-01 CMT-2S, DSMA-1
MEFV Mediterranean fever 16 p13.3 1 225 24 2017-08-28 FMF, FMFD
NEB nebulin 2 q22 2 84 83 2015-04-02 NEM-2
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 234 146 2017-09-01 NPHS, NPHS-1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 239 67 2017-09-01 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 67 33 2017-09-01 ACG-1B, AO-2, DTD, EDM-4
TGM1 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) 14 q11.2 1 156 69 2016-06-29 ARCI-1, ARCI-2



Variants found

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

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

Domain     

IDbase Accession Number     

VariO Annotation DNA level     

VariO Annotation protein level     

VariO Annotation RNA level     

Exon     

DNA change (cDNA)     

Haplotype     

Class.     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type     

Conservation     

CpG     

DB CrossRef     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
1 Unknown g.22202483G>A - - - HSPG2_000001 - - - Germline - - - - - Gerard C.P. Schaafsma HSPG2 ?/. - - - - - - - NM_005529.5:c.3056C>T - - - r.(?) p.(Pro1019Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.152520370T>A - - - NEB_000260 - - - Germline - - - 0 - Gerard C.P. Schaafsma NEB +/. - - - - - - - NM_001164507.1:c.5455A>T, NM_001271208.1:c.5455A>T - - - r.(?) p.(Lys1819*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.241813413C>T - - - AGXT_000002 - - - Germline - - - - - Gerard C.P. Schaafsma AGXT ?/. - - - - - - - NM_000030.2:c.614C>T - - - r.(?) p.(Ser205Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.33138549G>A - - - GLB1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma GLB1, TMPPE ./. - - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - - - r.(?), p.(Pro10Leu), - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Both (homozygous) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 ?/. - - - - - - 3 NM_000112.3:c.2065A>T - - - r.(?) p.(Thr689Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.32007849G>C - - - CYP21A2_000001 - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - - 7 NM_000500.7:c.806G>C - - - r.(?) p.(Ser269Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.34649029G>T - - - GALT_000003 - - - Germline - - - - - Gerard C.P. Schaafsma GALT ?/. - - - - - - - NM_000155.2:c.855G>T - - - r.(?) p.(Lys285Asn) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.68705674C>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 - - - ATP7B_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.88450770G>A - - - GALC_000001 - - - Germline - - - - - Gerard C.P. Schaafsma GALC ./. - - - - - - 5 NM_000153.3:c.550C>T - - - r.(?) p.(Arg184Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94847415A>G - - - SERPINA1_000002 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.710T>C - - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.3304463C>T - - - MEFV_000001 - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV ?/. - - - - - - 2 NM_000243.2:c.605G>A - - - r.(?) p.(Arg202Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.28493821C>A - - - CLN3_000005 - - - Germline - - - - - Gerard C.P. Schaafsma CLN3 ?/. - - - - - - - NM_001042432.1:c.883G>T - - - r.(?) p.(Glu295*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.28497286_28498251del - INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - Germline - - - - - Gerard C.P. Schaafsma CLN3 ?/. - - - - - - - NM_001042432.1:c.461-280_677+382del - - - r.(?) p.(Gly154Alafs*29) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36339247C>T - - - NPHS1_000003 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.1223G>A - - - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.51850290G>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