Screening #0000000022

Individual ID 00000022
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 13
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ALPL alkaline phosphatase, liver/bone/kidney 1 p36.12 1 5 3 2017-05-27 Adult hypophosphatasia, Childhood hypophosphatasia, hypophosphatasia, infantile
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
CBS cystathionine-beta-synthase 21 q22.3 1 56 8 2017-05-26 CBSD, ID
DPYD dihydropyrimidine dehydrogenase 1 p22 1 95 20 2017-07-29 DMB-p, DPDD, ID
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
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
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 234 146 2017-09-01 NPHS, NPHS-1
PAH phenylalanine hydroxylase 12 q22-q24.2 1 16 14 2017-07-31 PKU
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



Variants found

13 entries on 1 page. Showing entries 1 - 13.
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.21889760G>A - - - ALPL_000002 - - - Germline - - - - - Gerard C.P. Schaafsma ALPL, PRKAR1A +?/+? - - - - - - 9 NM_000478.3:c.455G>A, NM_002734.4:c.866G>A - - - r.(?), r.(866g>a) p.(Arg152His), p.(Gly289Glu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.97981395T>C - - - DPYD_000001 - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - - NM_000110.3:c.1627A>G - - - r.(?) p.(Ile543Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) 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.(?), r.? p.(Pro10Leu), p.? - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Maternal (confirmed) g.41748007T>G - - - PHOX2B_000029 - PubMed: Arai 2007, Journal: Arai 2007 - Germline - - - 0 - Johan den Dunnen PHOX2B -/- - - - - - - 3 NM_003924.3:c.762A>C Ala-20 - - r.(?) p.(Ala254=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.103248932C>T - - - PAH_000006 - - - Germline - - - - - Gerard C.P. Schaafsma PAH ?/. - - - - - - - NM_000277.1:c.688G>A - - - r.(?) p.(Val230Ile) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.52513266T>C - - - ATP7B_000002 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3620A>G - - - r.(?) p.(His1207Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.94849201C>T - - - SERPINA1_000003 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.374G>A - - - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36322601T>C - - - NPHS1_000002 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.3230A>G - - - r.(?) p.(Asn1077Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36339247C>T - - - NPHS1_000003 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.1223G>A - - - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) 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