Screening #0000000016

Individual ID 00000016
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
ADA adenosine deaminase 20 q13.12 1 71 46 2019-07-05 Severe combined immunodeficiency due to ADA deficiency
ALG6 asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) 1 p31.3 1 33 17 2019-06-28 CDG-1C, ID
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 380 192 2019-07-05 Wilson
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 712 473 2019-07-05 BESC-1, CBAVD, CF, PCTT
DPYD dihydropyrimidine dehydrogenase 1 p22 1 175 46 2019-07-05 DMB-p, DPDD, ID
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 6 q22-q23 1 100 42 2019-06-28 ARHR-2, COLED, GACI-1, NIDDM
GLB1 galactosidase, beta 1 3 p22.3 1 183 74 2019-07-12 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 366 199 2019-07-05 CMT-2S, DSMA-1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 193 2019-07-05 NPHS, NPHS-1
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 6 p21.2-p12 1 556 477 2019-07-05 ARPKD



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.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma ALG6, PRKAR1A +?/+? - - - - - 6, 7 NM_013339.3:c.391T>C, NM_002734.4:c.637G>A - - r.(?), r.(637g>a) p.(Tyr131His), p.(Ala213Thr) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A +?/+? - - - - - 11 NM_000110.3:c.1627A>G, NM_002734.4:c.1102C>T - - r.(?) p.(Ile543Val), p.(Arg368*) - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.73799927A>C - ALMS1(NM_015120.4):c.10920A>C (p.=) - ALMS1_000413 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL ALMS1 -?/. - - - - - - NM_015120.4:c.10920A>C - likely benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
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.51611651C>A g.51746853C>A - - PKHD1_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma PKHD1 ?/. - - - - - - NM_138694.3:c.9866G>T - - r.(?) p.(Ser3289Ile) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.132206079C>T g.131884939C>T - - ENPP1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma ENPP1 ?/. - - - - - - NM_006208.2:c.2320C>T - - r.(?) p.(Arg774Cys) - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.117227832G>T g.117587778G>T - - CFTR_000002 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR ?/. - - - - - 12 NM_000492.3:c.1624G>T - VUS r.(?) p.(Gly542*) - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma IGHMBP2 ?/. - - - - - 14 NM_002180.2:c.2636C>A - - r.(?) p.(Thr879Lys) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36322601T>C g.35831699T>C - - NPHS1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.3230A>G - - r.(?) p.(Asn1077Ser) - - - - - - - - - - - - - - - - - - - - - - -
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