Screening #0000000004

Individual ID 00000004
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
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1 p31 1 9 3 2017-09-01 Medium-chain acyl-coenzyme A dehydrogenase deficiency
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1 p21 1 9 7 2017-08-07 GSD-3
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
GAA glucosidase, alpha; acid 17 q25.2-q25.3 1 370 219 2017-08-10 GSD-2
HESX1 HESX homeobox 1 3 p14.3 1 8 1 2017-07-31 ID, dysplasia, septo-optic
NHLRC1 NHL repeat containing 1 6 p22.3 1 61 1 2017-09-01 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 234 146 2017-09-01 NPHS, NPHS-1
SBDS Shwachman-Bodian-Diamond syndrome 7 q11.22 1 9 2 2017-05-27 anemia, Shwachman syndrome
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
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 39 5 2017-06-30 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B



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.97981395T>C - - - DPYD_000001 - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A +/. - - - - - - 11 NM_000110.3:c.1627A>G, NM_002734.4:c.1102C>T - - - r.(?) p.(Ile543Val), p.(Arg368*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.100327088A>G - - - AGL_000016 - - - Germline - - - 0 - Gerard C.P. Schaafsma AGL, PRKAR1A +?/+? - - - - - - 3, 6 NM_000642.2:c.112A>G, NM_002734.4:c.524A>G - - - r.(?), r.(524a>g) p.(Thr38Ala), p.(Tyr175Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.57232504T>C - - - HESX1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma HESX1 ?/. - - - - - - - NM_003865.2:c.374A>G - - - r.(?) p.(Asn125Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown 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.18122506G>A - - - NHLRC1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.66453476A>G - - - SBDS_000001 - - - Germline - - - - - Gerard C.P. Schaafsma SBDS ?/. - - - - - - - NM_016038.2:c.635T>C - - - r.(?) p.(Ile212Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.128498529G>A - - - FLNC_000001 immunoglobulin 24 repeat expression cloning - circular dichroism spectra suggest improper folding, chemical cross-linking no dimerization but aggregation PubMed: Vorgerd 2005, OMIM:var0001 - In vitro (cloned) - - - 0 - Monkol Lek FLNC +/. - - - - - - 48 NM_001458.4:c.8130G>A - - - - p.Trp2710* - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.6415463G>A - - - SMPD1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma SMPD1 ?/. - - - - - - - NM_000543.3:c.1522G>A - - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78082628G>A - INTRON 7, IVS7+1G>A - GAA_000078 - - - Germline - - - - - Gerard C.P. Schaafsma GAA ?/. - - - - - - 8i NM_000152.3:c.1326+1G>A - - - r.spl? p.? - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78084529T>C - - - GAA_000080 - - - Germline - - - - - Gerard C.P. Schaafsma GAA ?/. - - - - - - 10 NM_000152.3:c.1441T>C - - - r.(?) p.(Trp481Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.36330277C>G - - - NPHS1_000004 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.2971G>C - - - r.(?) p.(Val991Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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