Screening #0000000053

Individual ID 00000053
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
AHI1 Abelson helper integration site 1 6 q23.2 2 116 83 2019-07-05 ID, JBTS-1, JBTS-3
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 284 145 2019-07-05 Wilson
DMD dystrophin X p21.2 1 17291 5463 2019-07-16 BMD, BMD/DMD, CMD-3B, DMD
DPYD dihydropyrimidine dehydrogenase 1 p22 1 149 32 2019-07-05 DMB-p, DPDD, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 79 10 2019-07-05 MADD
GALC galactosylceramidase 14 q31 1 95 57 2019-06-28 Krabbe
GLB1 galactosidase, beta 1 3 p22.3 1 158 59 2019-07-12 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1 p36.3 1 59 30 2019-07-14 NTDFS, SCZD, THPH-1, homocysteinemia, due to deficiency of MTHFR
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 73 42 2019-07-05 ID, Griscelli syndrome, type 1
NHLRC1 NHL repeat containing 1 6 p22.3 1 73 10 2019-07-05 epilepsy, myoclonic, of Lafora
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 260 75 2019-07-05 AATD, COPD



Variants found

11 entries on 1 page. Showing entries 1 - 11.
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     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
1 Unknown g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MTHFR ?/. - - - - - - NM_005957.4:c.1781G>A - - r.(?) p.(Arg594Gln) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.98165091T>C g.97699535T>C - - DPYD_000002 - PubMed: Bell 2011 - - Germline - - - 0 - Johan den Dunnen DPYD ?/. - - - - - - NM_000110.3:c.496A>G - - r.(?) p.(Met166Val) - - - - - - - - - - - - - - - - - - - - - - -
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.135644371T>C g.135323233T>C - - AHI1_000007 - - - - Germline - - - 0 - Gerard C.P. Schaafsma AHI1 ./. - - - - - 25 NM_001134831.1:c.3257A>G, NM_017651.4:c.3257A>G - - r.(?) p.(Glu1086Gly) - - - - - - - - - - - - - - - - - - - - - - -
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.88431969T>C g.87965625T>C - - GALC_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma GALC ./. - - - - - 9 NM_000153.3:c.913A>G - - r.(?) p.(Ile305Val) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
X Parent #1 g.(?_31140035)_(31792079_31838091)del - exon 51-55del, ChrX:31702000_32144956del - DMD_015179 - PubMed: Bell 2011 - - Germline - - - 0 - Johan den Dunnen DMD +/. - - - - - 50i_79_ NM_004006.2:c.(7309+1_7310-1)_(*1_?)del - - r.del p.fs? - - - - - - - - - - - - - - - - - - - - - - -
Legend