Screening #0000000061

Individual ID 00000061
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 63 40 2019-06-07 Severe combined immunodeficiency due to ADA deficiency
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 284 145 2019-06-10 Wilson
BTD biotinidase 3 p25 1 337 144 2018-11-20 deficiency, biotinidase
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 79 10 2019-06-07 MADD
GLB1 galactosidase, beta 1 3 p22.3 1 114 34 2018-11-20 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
HEXB hexosaminidase B (beta polypeptide) 5 q13.3 1 65 25 2018-11-20 Sandhoff
HSPG2 heparan sulfate proteoglycan 2 1 p36.1-p35 1 111 99 2018-06-05 DDSH, SJS-1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1 p36.3 1 58 30 2018-11-01 NTDFS, SCZD, THPH-1, homocysteinemia, due to deficiency of MTHFR
POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1 p34.1 1 379 170 2019-03-08 ID, LGMD-2O;MDDGC-3, MDDGA-3;MEB;WWS, MDDGB-3
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 260 75 2019-06-10 AATD, COPD
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 183 127 2019-06-10 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B



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.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MTHFR ?/. - - - - - - NM_005957.4:c.1781G>A - - r.(?) p.(Arg594Gln) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.22202483G>A g.21875990G>A - - HSPG2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HSPG2 ?/. - - - - - - NM_005529.5:c.3056C>T - - r.(?) p.(Pro1019Leu) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.46655645C>T g.46189973C>T - - POMGNT1_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma POMGNT1 ./. - - - - - - NM_001243766.1:c.1666G>A - - r.(?) p.(Asp556Asn) - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.15686693G>C - - - BTD_000021 - - - - Germline - - - - - Gerard C.P. Schaafsma BTD ?/. - - - - - - NM_000060.2:c.1330G>C - - r.(?) p.(Asp444His) - - - - - - - - - - - - - - - - - - - - - - -
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.(=) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
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.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.710T>C - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ETFB ?/. - - - - - - NM_001014763.1:c.734C>T, NM_001985.2:c.461C>T - - r.(?) p.(Thr245Met), p.(Thr154Met) - - - - - - - - - - - - - - - - - - - - - - -
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