Screening #0000000060

Individual ID 00000060
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 9
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 380 191 2019-07-05 Wilson
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 712 473 2019-08-09 BESC-1, CBAVD, CF, PCTT
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 6 q22-q23 1 113 42 2019-07-27 ARHR-2, COLED, GACI-1, NIDDM
GBA glucosidase, beta, acid 1 q22 1 66 44 2019-06-28 PD, Acute neuronopathic Gaucher's disease, Gaucher disease type 3C, Gaucher disease, perinatal lethal, Gaucher's disease, type 1, Lewy body dementia, Subacute neuronopathic Gaucher's disease
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
NHLRC1 NHL repeat containing 1 6 p22.3 1 77 14 2019-07-05 epilepsy, myoclonic, of Lafora
NPC2 Niemann-Pick disease, type C2 14 q24.3 1 27 16 2019-02-22 NPC-2
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 192 2019-07-05 NPHS, NPHS-1
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

9 entries on 1 page. Showing entries 1 - 9.
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.155210420C>T g.155240629C>T INTRON 2, IVS2+1G>A, CHR1:153477044G>A - GBA_000008 - - - - Germline - - - - - Gerard C.P. Schaafsma GBA - - - - - - NM_000157.3:c.115+1G>A - - 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.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 - - - - - - NM_198586.2:c.332C>T - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. g.132206079C>T g.131884939C>T - - ENPP1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma ENPP1 - - - - - - NM_006208.2:c.2320C>T - VUS r.(?) p.(Arg774Cys) - - - - - - - - - - - - - - - - - - -
7 Unknown ?/. g.117180285G>A g.117540231G>A - - CFTR_001014 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR - - - - - 8 NM_000492.3:c.1001G>A - VUS r.(?) p.(Arg334Gln) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. g.6415463G>A - - - SMPD1_000101 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SMPD1 - - - - - - NM_000543.3:c.1522G>A - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) ?/. 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.74953134C>T g.74486431C>T - - NPC2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma NPC2 - - - - - 2 NM_006432.3:c.88G>A - - r.(?) p.(Val30Met) - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) ?/. g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.349G>A - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - -
Legend