Screening #0000000013

Individual ID 00000013
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 8
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1 p21 1 74 51 2019-09-18 GSD-3
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 380 191 2019-07-05 Wilson
COL7A1 collagen, type VII, alpha 1 3 p21.1 1 963 536 2019-07-30 NDNC-8, RDEB, Epidermolysis bullosa pruriginosa, epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type), epidermolysis bullosa, pretibial, Generalized dominant dystrophic epidermolysis bullosa, Transient bullous dermolysis of the newborn
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 2 p23 1 21 16 2019-07-05 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, mitochondrial trifunctional protein deficiency (MTPD)
MEFV Mediterranean fever 16 p13.3 1 563 305 2019-09-30 FMF, FMFD
NHLRC1 NHL repeat containing 1 6 p22.3 1 77 14 2019-07-05 epilepsy, myoclonic, of Lafora
PAH phenylalanine hydroxylase 12 q22-q24.2 1 179 130 2019-06-28 PKU
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 215 143 2019-07-05 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B



Variants found

8 entries on 1 page. Showing entries 1 - 8.
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.100327088A>G g.99861532A>G - - AGL_000016 - - - - Germline - - - 0 - Johan den Dunnen AGL - - - - - 3 NM_000642.2:c.112A>G - - r.(?) p.(Thr38Ala) - - - - - - - - - - - - - - - - - - -
2 Unknown ?/. g.26432662G>T g.26209793G>T - - HADHA_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HADHA - - - - - - NM_000182.4:c.1072C>A - - r.(?) p.(Gln358Lys) - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. g.48619778C>T g.48582345C>T - - COL7A1_000362 - - - - Germline - - - - - Gerard C.P. Schaafsma COL7A1 - - - - - 46 NM_000094.3:c.4613G>A - - r.(?) p.(Arg1538His) - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) ?/. g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 - - - - - - NM_198586.2:c.332C>T - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. g.6415463G>A - - - SMPD1_000101 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SMPD1 - - - - - - NM_000543.3:c.1522G>A - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. g.103260383T>C g.102866605T>C - - PAH_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma PAH - - - - - - NM_000277.1:c.500A>G - - r.(?) p.(Asn167Ser) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. g.3306464G>A g.3256464G>A - - MEFV_000004 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV - - - - - 1 NM_000243.2:c.124C>T - - r.(?) p.(Arg42Trp) - - - - - - - - - - - - - - - - - - -
Legend