Screening #0000000024

Individual ID 00000024
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
AGA aspartylglucosaminidase 4 q34.3 1 50 39 2018-06-03 AGU, ID
AMPD1 adenosine monophosphate deaminase 1 1 p13 1 8 5 2018-06-03 MMDD
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 269 130 2018-06-03 Wilson
CBS cystathionine-beta-synthase 21 q22.3 1 89 31 2018-06-03 CBSD, ID
CPT1A carnitine palmitoyltransferase 1A (liver) 11 q13.2 1 18 8 2018-06-03 carnitine palmitoyltransferase I deficiency
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
DPYD dihydropyrimidine dehydrogenase 1 p22 1 118 30 2018-06-03 DMB-p, DPDD, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 76 7 2018-06-03 MADD;GA-2B
MEFV Mediterranean fever 16 p13.3 1 527 284 2018-06-03 FMF, FMFD
NPHP4 nephronophthisis 4 1 p36 1 140 104 2018-06-03 NPHP-4, SLSN-4
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 305 185 2018-06-03 NPHS, NPHS-1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 261 75 2018-06-03 AATD, COPD



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     

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     
1 Unknown g.5935064T>C - - - NPHP4_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHP4 ?/. - - - - - - NM_015102.2:c.2914A>G - - - r.(?) p.(Ser972Gly) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.94506760del - - - ABCA4_000613 expression cloning midigene splicing construct: 0.530 correctly spliced RNA PubMed: Sangermano 2018 - - In vitro (cloned) - - - 0 - Frans Cremers ABCA4 +?/. - - - - - 23i NM_000350.2:c.3522+5del - - - r.[=,3329_3522del] p.[(=,Arg1111Aspfs∗7)] - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - NM_000110.3:c.496A>G - - - r.(?) p.(Met166Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - 0 - Johan den Dunnen AMPD1 ?/. - - - - - - NM_000036.2:c.242C>T - - - r.(?) p.(Pro81Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Both (homozygous) g.178359918C>G g.177438764C>G - - AGA_000002 - - - - Germline - - - 0 - Gerard C.P. Schaafsma AGA ?/. - - - - - - NM_000027.3:c.488G>C - - - r.(?) p.(Cys163Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Both (homozygous) g.178359924C>T g.177438770C>T - - AGA_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma AGA ?/. - - - - - - NM_000027.3:c.482G>A - - - r.(?) p.(Arg161Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CPT1A ?/. - - - - - - NM_001876.3:c.823G>A - - - r.(?) p.(Ala275Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.374G>A - - - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.3293403T>C g.3243403T>C - - MEFV_000009 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV ?/. - - - - - 10 NM_000243.2:c.2084A>G - - - r.(?) p.(Lys695Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.349G>A - - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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