Screening #0000000057

Individual ID 00000057
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 15
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ALDOB aldolase B, fructose-bisphosphate 9 q21.3-q22.2 1 12 11 2018-06-03 fructosuria, hereditary
ATM ataxia telangiectasia mutated 11 q22-q23 1 2891 1400 2019-10-26 AT, cancer, breast, familial
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 392 198 2019-07-05 Wilson
DPYD dihydropyrimidine dehydrogenase 1 p22 1 180 48 2019-07-20 DMB-p, DPDD, ID
ERCC6 excision repair cross-complementing rodent repair deficiency, complementation group 6 10 q11 1 139 110 2018-06-03 ACLC, ARMD-5, COFS-1, CS, CSB, ID, UVSS, De Sanctis-Cacchione syndrome
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 83 14 2019-07-05 MADD
GAA glucosidase, alpha; acid 17 q25.2-q25.3 1 2793 751 2019-09-30 GSD-2
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 367 199 2019-07-05 CMT-2S, DSMA-1
LAMA2 laminin, alpha 2 6 q22-q23 1 2006 624 2019-12-10 ID, LGMDR-23, MDC, MDC-1A
NHLRC1 NHL repeat containing 1 6 p22.3 1 77 14 2019-07-05 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 193 2019-07-05 NPHS, NPHS-1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 293 80 2019-07-28 AATD, COPD



Variants found

15 entries on 1 page. Showing entries 1 - 15.
Legend  

Chr     

Allele     

Effect     

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
1 Unknown ?/. g.97547947T>A g.97082391T>A - - DPYD_000004 - - - rs67376798 Germline - - - 0 - Gerard C.P. Schaafsma DPYD - - - - - 22 NM_000110.3:c.2846A>T - - r.(?) p.(Asp949Val) - - - - - - - - - - - - - - - - - - -
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.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - Gerard C.P. Schaafsma LAMA2 - - - - - 24 NM_000426.3:c.3412G>A - - r.(?) p.(Val1138Met) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/. g.104187213C>T g.101424931C>T - - ALDOB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ALDOB - - - - - - NM_000035.3:c.911G>A - - r.(?) p.(Arg304Gln) - - - - - - - - - - - - - - - - - - -
10 Unknown ?/. g.50678468_50678469del - chr10:g.50348475_50348476del - ERCC6_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma ERCC6, HTT - - - - - 2i NM_000124.2:c.3537_3538del, NM_002111.6:c.348-2680C= - - r.(?) p.(Tyr1179*), p.(=) - - - - - - - - - - - - - - - - - - -
10 Unknown ?/. g.50690735G>A - - - ERCC6_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ERCC6, HTT - - - - - 2i NM_000124.2:c.2167C>T, NM_002111.6:c.348-2680C>G - - r.(?) p.(Gln723*), p.(=) - - - - - - - - - - - - - - - - - - -
10 Unknown ?/. g.50690735G>T - - - ERCC6_000004 Not known correct genotype - - - Germline - - - - - Gerard C.P. Schaafsma ERCC6, HTT - - - - - 2i NM_000124.2:c.2167C>A, NM_002111.6:c.348-2680C>G - - r.(?) p.(Gln723Lys), p.(=) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. g.108098576C>G g.108227849C>G - - ATM_000007 - - - - Germline - - - - - Gerard C.P. Schaafsma ATM - - - - - - NM_000051.3:c.146C>G - VUS r.(?) p.(Ser49Cys) - - - - - - - - - - - - - - - - - - -
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 Both (homozygous) ?/. g.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.1200A>C - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.78078656G>A g.80104857G>A - - GAA_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma GAA - - - - - 2 NM_000152.3:c.271G>A - VUS r.(?) p.(Asp91Asn) - - - - - - - - - - - - - - - - - - -
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.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