Screening #0000000087

Individual ID 00000087
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 11
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AHI1 Abelson helper integration site 1 6 q23.2 1 113 81 2018-06-03 ID, JBTS-1, JBTS-3
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 269 130 2018-06-03 Wilson
BTD biotinidase 3 p25 1 338 144 2018-06-03 deficiency, biotinidase
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 255 167 2018-06-28 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 76 7 2018-06-03 MADD;GA-2B
FRAS1 Fraser syndrome 1 4 q21 1 326 284 2017-01-08 Fraser, ID
GLB1 galactosidase, beta 1 3 p22.3 1 115 34 2018-06-03 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 173 95 2018-06-03 CMT-2S, DSMA-1
NHLRC1 NHL repeat containing 1 6 p22.3 1 73 10 2018-06-03 epilepsy, myoclonic, of Lafora
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 261 75 2018-06-03 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 90 42 2018-06-03 ACG-1B, AO-2, DTD, EDM-4



Variants found

11 entries on 1 page. Showing entries 1 - 11.
Legend  

Chr     

Allele     

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     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

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     
3 Unknown g.15686534C>T - - - BTD_000006 - - - - Germline - - - - - Gerard C.P. Schaafsma BTD ?/. - - - - - - NM_000060.2:c.1171C>T - - - r.(?) p.(Pro391Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.(?), r.(=) p.(Pro10Leu), p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Unknown g.79400782del g.78479628del - - FRAS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma FRAS1 ?/. - - - - - - NM_025074.6:c.8353del - - - r.(?) p.(Val2785Trpfs*33) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.32006387A>T g.32038610A>T - - CYP21A2_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - 1 NM_000500.7:c.188A>T - - - r.(?) p.(His63Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.135751024G>A g.135429886G>A - - AHI1_000006 - - - - Germline - - - 0 - Gerard C.P. Schaafsma AHI1 ?/. - - - - - 18 NM_001134831.1:c.2488C>T - - - r.(?) p.(Arg830Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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 Unknown 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.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.1200A>C - - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) 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