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 8 7 2018-01-05 GSD-3
DPYD dihydropyrimidine dehydrogenase 1 p22 1 97 22 2017-10-24 DMB-p, DPDD, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 70 3 2017-10-24 MADD;GA-2B
GAA glucosidase, alpha; acid 17 q25.2-q25.3 1 391 230 2017-10-24 GSD-2
HESX1 HESX homeobox 1 3 p14.3 1 8 1 2017-10-24 ID, dysplasia, septo-optic
NHLRC1 NHL repeat containing 1 6 p22.3 1 61 1 2017-10-24 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 12 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     

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.97981395T>C g.97515839T>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 g.99861532A>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 g.57198476T>C - - HESX1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HESX1 ?/. - - - - - - NM_003865.2:c.374A>G - - - r.(?) p.(Asn125Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown 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.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SBDS ?/. - - - - - - NM_016038.2:c.635T>C - - - r.(?) p.(Ile212Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.128498529G>A g.128858475G>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 g.80108829G>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 g.80110730T>C - - GAA_000080 - - - - Germline - - - - - Gerard C.P. Schaafsma GAA ?/. - - - - - 10 NM_000152.3:c.1441T>C - - - r.(?) p.(Trp481Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36322601T>C g.35831699T>C - - NPHS1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.3230A>G - - - r.(?) p.(Asn1077Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36330277C>G g.35839375C>G - - NPHS1_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.2971G>C - - - r.(?) p.(Val991Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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