Screening #0000000032

Individual ID 00000032
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 12
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ADA adenosine deaminase 20 q13.12 1 34 17 2018-06-03 Severe combined immunodeficiency due to ADA deficiency
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 269 130 2018-06-03 Wilson
BTD biotinidase 3 p25 1 338 144 2018-06-03 deficiency, biotinidase
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
HEXB hexosaminidase B (beta polypeptide) 5 q13.3 1 66 25 2018-06-03 Sandhoff
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 6 p21.2-p12 1 473 431 2018-06-21 ARPKD
PMM2 phosphomannomutase 2 16 p13 1 53 29 2018-06-03 CDG-1A, ID
RPGRIP1L RPGRIP1-like 16 q12.2 1 79 64 2018-06-03 COACH, ID, JBTS-7, MKS-5
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 261 75 2018-06-03 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 90 42 2018-06-03 ACG-1B, AO-2, DTD, EDM-4
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 90 39 2018-06-03 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B



Variants found

12 entries on 1 page. Showing entries 1 - 12.
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.94496547C>T - - - ABCA4_000560 expression cloning midigene splicing construct: no correctly spliced RNA PubMed: Sangermano 2018 - - In vitro (cloned) - - - 0 - Frans Cremers ABCA4 +/. - - - - - 28i NM_000350.2:c.4253+5G>A - - - r.4129_4253del p.(Ile1377Hisfs∗3) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.15677019G>A - - - BTD_000024 - - - - Germline - - - - - Gerard C.P. Schaafsma BTD ?/. - - - - - - NM_000060.2:c.133G>A - - - r.(?) p.(Gly45Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) 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.? - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.73992881A>G g.74697056A>G - - HEXB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HEXB ?/. - - - - - 5 NM_000521.3:c.619A>G - - - r.(?) p.(Ile207Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 ?/. - - - - - 3 NM_000112.3:c.2065A>T - - - r.(?) p.(Thr689Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Parent #1 g.51923291C>G g.52058493C>G - - PKHD1_000002 - - - - Germline - - - 0 - Gerard C.P. Schaafsma PKHD1 ?/. - - - - - 16 NM_138694.3:c.1342G>C - - - r.(?) p.(Gly448Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.6415463G>A - - - SMPD1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SMPD1 ?/. - - - - - - NM_000543.3:c.1522G>A - - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.710T>C - - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.8905010G>A g.8811153G>A - - PMM2_000002 - PubMed: Bell 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma PMM2 +/+ - - - - - 5 NM_000303.2:c.422G>A - - - r.(?) p.(Arg141His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.53692694A>G g.53658782A>G - - RPGRIP1L_000011 - - - - Germline - - - 0 - Gerard C.P. Schaafsma RPGRIP1L ?/. - - - - - 11 NM_015272.2:c.1340T>C - - - r.(?) p.(Leu447Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - NM_000022.2:c.239A>G - - - r.(?) p.(Lys80Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend