Screening #0000000018

Individual ID 00000018
Template DNA
Technique NGS
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
ALG6 asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) 1 p31.3 1 6 2 2017-06-30 CDG-1C, ID
ASPA aspartoacylase 17 p13.3 1 5 3 2017-05-27 ID, Spongy degeneration of central nervous system
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
DPYD dihydropyrimidine dehydrogenase 1 p22 1 95 20 2017-07-29 DMB-p, DPDD, ID
GLB1 galactosidase, beta 1 3 p22.3 1 75 5 2017-09-01 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
LAMA2 laminin, alpha 2 6 q22-q23 1 1209 487 2017-10-19 ID, MDC-1A
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 1 p34.1 1 2 1 2017-05-27 ID, aciduria, methylmalonic, and homocystinuria, cblC type
MPL myeloproliferative leukemia virus oncogene 1 p34 1 7 2 2017-06-11 CAMT, Myelofibrosis, Thrombocytosis, benign familial microcytic
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 31 2 2017-07-25 ID, Griscelli syndrome, type 1
NHLRC1 NHL repeat containing 1 6 p22.3 1 61 1 2017-09-01 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 234 146 2017-09-01 NPHS, NPHS-1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 239 67 2017-09-01 AATD, COPD
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 39 5 2017-06-30 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B



Variants found

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

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

Domain     

IDbase Accession Number     

VariO Annotation DNA level     

VariO Annotation protein level     

VariO Annotation RNA level     

Exon     

DNA change (cDNA)     

Haplotype     

Class.     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type     

Conservation     

CpG     

DB CrossRef     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
1 Unknown g.43804340G>A - - - MPL_000001 - - - Germline - - - - - Gerard C.P. Schaafsma MPL ?/. - - - - - - - NM_005373.2:c.340G>A - - - r.(?) p.(Val114Met) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.45973217_45973218insA - - - MMACHC_000001 - - - Germline - - - - - Gerard C.P. Schaafsma MMACHC ?/. - - - - - - - NM_015506.2:c.271_272insA - - - r.(?) p.(Arg91Lysfs*14) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.63872032T>C - - - ALG6_000005 - - - Germline - - - 0 - Gerard C.P. Schaafsma ALG6, PRKAR1A +?/+? - - - - - - 6, 11 NM_013339.3:c.391T>C, NM_002734.4:c.1003C>T - - - r.(?), r.(1003c>u) p.(Tyr131His), p.(Arg335Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) g.97981395T>C - - - DPYD_000001 - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - - NM_000110.3:c.1627A>G - - - r.(?) p.(Ile543Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.33138549G>A - - - GLB1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma GLB1, TMPPE ./. - - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - - - r.(?), p.(Pro10Leu), - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Maternal (confirmed) g.41747990_41748004del - - - PHOX2B_000030 - PubMed: Arai 2007, Journal: Arai 2007 - Germline - - - 0 - Johan den Dunnen PHOX2B -/- - - - - - - 3 NM_003924.3:c.765_779del Ala-15 - - r.(?) p.(Ala256_Ala260del) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.18122506G>A - - - NHLRC1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.129635800G>A - - - LAMA2_000064 - - - Germline - - - 0 - Gerard C.P. Schaafsma LAMA2 ?/. - - - - - - 24 NM_000426.3:c.3412G>A - - - r.(?) p.(Val1138Met) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.6415463G>A - - - SMPD1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma SMPD1 ?/. - - - - - - - NM_000543.3:c.1522G>A - - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.52515354A>G - - - ATP7B_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94844843T>G - - - SERPINA1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.1200A>C - - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94849201C>T - - - SERPINA1_000003 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.374G>A - - - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
15 Unknown g.52643564G>A - - - MYO5A_000001 - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A ?/. - - - - - - - NM_000259.3:c.3736C>T - - - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.3397702C>A - - - ASPA_018005 - - - Germline - - - 0 - Gerard C.P. Schaafsma ASPA ?/. - - - - - - 5 NM_000049.2:c.693C>A - - - r.(?) p.(Tyr231*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.349G>A - - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend