Screening #0000000082

Individual ID 00000082
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 11
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 380 191 2019-07-05 Wilson
CPT1A carnitine palmitoyltransferase 1A (liver) 11 q13.2 1 19 9 2019-06-28 carnitine palmitoyltransferase I deficiency
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 636 422 2019-07-05 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 86 15 2019-07-05 MADD
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) 15 q23-q25 1 52 40 2018-06-03 Tyrosinemia type I
GLB1 galactosidase, beta 1 3 p22.3 1 185 75 2019-09-30 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
MCOLN1 mucolipin 1 19 p13.2 1 36 33 2012-04-16 ID, Ganglioside sialidase deficiency
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 88 55 2019-07-05 ID, Griscelli syndrome, type 1
NHLRC1 NHL repeat containing 1 6 p22.3 1 77 14 2019-07-05 epilepsy, myoclonic, of Lafora
NPC2 Niemann-Pick disease, type C2 14 q24.3 1 27 16 2019-02-22 NPC-2



Variants found

11 entries on 1 page. Showing entries 1 - 11.
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     
3 Both (homozygous) ?/. g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma GLB1, TMPPE - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - - r.(?), r.(=) p.(Pro10Leu), p.(=) - - - - - - - - - - - - - - - - - - -
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.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2, HTT - - - - - 7, 2i NM_000500.7:c.806G>C, NM_002111.6:c.348-2680C>G C5a - r.(?) p.(Ser269Thr), p.(=) - - - - - - - - - - - - - - - - - - -
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.52508989G>A g.51934853G>A - - ATP7B_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B - - - - - - NM_000053.3:c.4301C>T - - r.(?) p.(Thr1434Met) - - - - - - - - - - - - - - - - - - -
14 Unknown ?/. g.74953134C>T g.74486431C>T - - NPC2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma NPC2 - - - - - 2 NM_006432.3:c.88G>A - - r.(?) p.(Val30Met) - - - - - - - - - - - - - - - - - - -
15 Unknown ?/. g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A - - - - - - NM_000259.3:c.3736C>T - - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - -
15 Unknown ?/. g.80472526C>T g.80180184C>T - - FAH_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma FAH - - - - - 12 NM_000137.2:c.1021C>T - - r.(?) p.(Arg341Trp) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. g.7586625_7593057del g.7521739_7528171del EXONS 1 - 7, DEL6433BP, CHR19:7492622_7499054DEL - MCOLN1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MCOLN1 - - - - - - NM_020533.2:c.-141-u871_791del - - r.(?) p.? - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. g.7591645A>G g.7526759A>G INTRON 3, IVS3-2A>G, EXON4SKIP - MCOLN1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma MCOLN1 - - - - - - NM_020533.2:c.406-2A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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