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 1 115 19 2017-10-24 Wilson
CLN3 ceroid-lipofuscinosis, neuronal 3 16 p12 1 519 80 2017-08-07 CLN, CLN-3
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 25 7 2017-10-24 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 70 3 2017-10-24 MADD;GA-2B
GALC galactosylceramidase 14 q31 1 29 14 2018-01-13 Galactosylceramide beta-galactosidase deficiency
GALT galactose-1-phosphate uridylyltransferase 9 p13 1 7 5 2017-09-01 ID, galactosemia (galactose-1-phosphate uridylyltransferase deficiency)
GLB1 galactosidase, beta 1 3 p22.3 1 77 6 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 69 23 2017-09-01 CMT-2S, DSMA-1
MEFV Mediterranean fever 16 p13.3 1 243 38 2017-08-28 FMF, FMFD
NEB nebulin 2 q22 2 91 88 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 2017-10-24 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     

ClinVar ID     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

Class.     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
1 Unknown g.22202483G>A g.21875990G>A - - HSPG2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HSPG2 ?/. - - - - - - NM_005529.5:c.3056C>T - - - r.(?) p.(Pro1019Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.152520370T>A g.151663856T>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 g.240873996C>T - - AGXT_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma AGXT ?/. - - - - - - NM_000030.2:c.614C>T - - - r.(?) p.(Ser205Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.33138549G>A g.33097057G>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 g.149981658A>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 g.32040072G>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 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.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.710T>C - - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.3304463C>T g.3254463C>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 g.28482500C>A - - CLN3_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma CLN3 ?/. - - - - - - NM_001042432.1:c.883G>T - - - r.(?) p.(Glu295*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.28497286_28498251del g.28485965_28486930del 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 g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.1223G>A - - - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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