Screening #0000000040

Individual ID 00000040
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 5
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ATP7A ATPase, Cu++ transporting, alpha polypeptide X q21.1 2 111 94 2018-06-03 ID, Menkes, atrophy, muscular, spinal, distal, X-linked, type 3, Occipital horn syndrome
DPYD dihydropyrimidine dehydrogenase 1 p22 1 118 30 2018-06-03 DMB-p, DPDD, ID
GLB1 galactosidase, beta 1 3 p22.3 1 115 34 2018-06-03 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
LAMA2 laminin, alpha 2 6 q22-q23 1 1923 553 2018-07-03 ID, MDC, MDC-1A



Variants found

5 entries on 1 page. Showing entries 1 - 5.
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     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
1 Unknown g.94487397C>T - - - ABCA4_000493 expression cloning midigene splicing construct: 0.291 correctly spliced RNA PubMed: Sangermano 2018 - - In vitro (cloned) - - - 0 - Frans Cremers ABCA4 +/. - - - - - 33i NM_000350.2:c.4773+5G>A - - - r.[4668_4773del,=,4668_5018del] p.[(Tyr1557Alafsāˆ—18,=,Tyr1557_Val1673del)] - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A, SAMHD1 +/. - - - - - 11, 12 NM_000110.3:c.1627A>G, NM_002734.4:c.1102C>T, NM_015474.3:c.1343T>C - - - r.(?) p.(Ile543Val), p.(Arg368*), p.(Ile448Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.33138549G>A g.33097057G>A - - GLB1_000001 - - - - Germline - - - - - 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.129635800G>A g.129314655G>A - - LAMA2_000064 - PubMed: Bell 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma LAMA2 ?/. - - - - - 24 NM_000426.3:c.3412G>A - - - r.(?) p.(Val1138Met) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.77244775_77244779del - chrX:77131431_77131435delATCTT - ATP7A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7A ./. - - - - - - NM_000052.4:c.657_661del, NM_000052.5:c.657_661del - - - r.(?) p.(Ile220Serfs*9) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend