Screening #0000000030

Individual ID 00000030
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 14
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 23 9 2017-09-01 Severe combined immunodeficiency due to ADA deficiency
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
CPT2 carnitine palmitoyltransferase 2 1 p32 1 5 5 2017-02-05 carnitine palmitoyltransferase II deficiency, infantile, carnitine palmitoyltransferase II deficiency, late-onset, carnitine palmitoyltransferase II deficiency, lethal neonatal, Encephalopathy, acute, infection-induced, 4, susceptibility to
GALC galactosylceramidase 14 q31 1 15 4 2017-09-27 Galactosylceramide beta-galactosidase deficiency
HEXB hexosaminidase B (beta polypeptide) 5 q13.3 1 26 4 2017-06-30 Sandhoff
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 65 21 2017-09-01 CMT-2S, DSMA-1
NHLRC1 NHL repeat containing 1 6 p22.3 1 61 1 2017-09-01 epilepsy, myoclonic, of Lafora
SBDS Shwachman-Bodian-Diamond syndrome 7 q11.22 1 9 2 2017-05-27 anemia, Shwachman syndrome
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 239 67 2017-09-01 AATD, COPD
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
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 39 5 2017-06-30 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B
TTPA tocopherol (alpha) transfer protein 8 q12.3 1 1 1 2017-05-26 VED
WNT10A wingless-type MMTV integration site family, member 10A 2 q35 1 71 10 2017-05-26 OODD, SSPS, STHAG-4



Variants found

14 entries on 1 page. Showing entries 1 - 14.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

Domain     

IDbase Accession Number     

VariO Annotation DNA level     

VariO Annotation protein level     

VariO Annotation RNA level     

Exon     

DNA change (cDNA)     

Haplotype     

Class.     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type     

Conservation     

CpG     

DB CrossRef     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
2 Unknown g.219755011T>A - - - WNT10A_000001 - - - Germline - - - - - Gerard C.P. Schaafsma WNT10A ?/. - - - - - - - NM_025216.2:c.682T>A - - - r.(?) p.(Phe228Ile) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.73992881A>G - - - HEXB_000001 - - - Germline - - - - - Gerard C.P. Schaafsma HEXB ?/. - - - - - - - NM_000521.3:c.619A>G - - - r.(?) p.(Ile207Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.149360630C>T - - - SLC26A2_000003 - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 ?/. - - - - - - 3 NM_000112.3:c.1474C>T - - - r.(?) p.(Arg492Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.18122506G>A - - - NHLRC1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.66453476A>G - - - SBDS_000001 - - - Germline - - - - - Gerard C.P. Schaafsma SBDS ?/. - - - - - - - NM_016038.2:c.635T>C - - - r.(?) p.(Ile212Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
8 Both (homozygous) g.63976767G>A - - - TTPA_000001 - - - Germline - - - - - Gerard C.P. Schaafsma TTPA ?/. - - - - - - - NM_000370.3:c.661C>T - - - r.(?) p.(Arg221Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.6415463G>A - - - SMPD1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma SMPD1 ?/. - - - - - - - NM_000543.3:c.1522G>A - - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.68705674C>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 - - - ATP7B_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.101020733G>T - - - PCCA_000008 - - rs61749895 Germline - - - 0 - Johan den Dunnen PCCA ?/. - - - - - - 19 NM_000282.3:c.1651G>T - - - r.(?) p.(Val551Phe) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.88450770G>A - - - GALC_000001 - - - Germline - - - - - Gerard C.P. Schaafsma GALC ./. - - - - - - 5 NM_000153.3:c.550C>T - - - r.(?) p.(Arg184Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Both (homozygous) g.94844843T>G - - - SERPINA1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.1200A>C - - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94849201C>T - - - SERPINA1_000003 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.374G>A - - - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Unknown g.43255220T>C - - - ADA_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - - NM_000022.2:c.239A>G - - - r.(?) p.(Lys80Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend