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 24 10 2018-01-13 Severe combined immunodeficiency due to ADA deficiency
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 115 19 2017-10-24 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 29 14 2018-01-13 Galactosylceramide beta-galactosidase deficiency
HEXB hexosaminidase B (beta polypeptide) 5 q13.3 1 51 13 2017-10-24 Sandhoff
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 69 23 2017-09-01 CMT-2S, DSMA-1
NHLRC1 NHL repeat containing 1 6 p22.3 1 61 1 2017-10-24 epilepsy, myoclonic, of Lafora
SBDS Shwachman-Bodian-Diamond syndrome 7 q11.22 1 12 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 2017-10-24 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 6 5 2017-05-26 VED
WNT10A wingless-type MMTV integration site family, member 10A 2 q35 1 72 11 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     

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     
2 Unknown g.219755011T>A g.218890289T>A - - WNT10A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma WNT10A ?/. - - - - - - NM_025216.2:c.682T>A - - - r.(?) p.(Phe228Ile) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.149360630C>T g.149981067C>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 g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SBDS ?/. - - - - - - NM_016038.2:c.635T>C - - - r.(?) p.(Ile212Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
8 Both (homozygous) g.63976767G>A g.63064208G>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 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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.101020733G>T g.100368479G>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 g.87984426G>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 g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.1200A>C - - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.374G>A - - - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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