Screening #0000000006

Individual ID 00000006
Template DNA
Technique NGS
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
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1 p31 1 9 3 2017-09-01 Medium-chain acyl-coenzyme A dehydrogenase deficiency
APTX aprataxin 9 p13.3 1 3 3 2016-11-25 EAOH, ID
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 115 19 2017-10-24 Wilson
GALC galactosylceramidase 14 q31 1 29 14 2018-01-13 Galactosylceramide beta-galactosidase deficiency
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1 p36.3 1 12 1 2017-07-25 NTDFS, SCZD, homocysteinemia, due to deficiency of MTHFR, Thrombophilia
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 239 67 2017-10-24 AATD, COPD
SGSH N-sulfoglucosamine sulfohydrolase 17 q25.3 1 18 13 2017-12-05 MPS-3A
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 67 33 2017-09-01 ACG-1B, AO-2, DTD, EDM-4



Variants found

9 entries on 1 page. Showing entries 1 - 9.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/Somatic/De novo     

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     

Class.     

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.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.76199277A>C - - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ACADM ?/. - - - - - - NM_000016.4:c.351A>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.32984803C>T g.32984805C>T - - APTX_000006 - - - - Germline - - - 0 - Gerard C.P. Schaafsma APTX ?/. - - - - - 7 NM_175073.2:c.596G>A - - - r.(?) p.(Arg199His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.52513266T>C g.51939130T>C - - ATP7B_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - NM_000053.3:c.3620A>G - - - r.(?) p.(His1207Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.88414158G>C g.87947814G>C - - GALC_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma GALC ./. - - - - - 13 NM_000153.3:c.1403C>G - - - r.(?) p.(Thr468Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78187647G>C g.80213848G>C - - SGSH_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma SGSH ?/. - - - - - - NM_000199.3:c.701C>G - - - r.(?) p.(Ala234Gly) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend