Screening #0000000014

Individual ID 00000014
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 24
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ALG6 asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) 1 p31.3 1 6 2 2017-06-30 CDG-1C, ID
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 321 185 2017-06-30 BESC-1, CBAVD, CF, PCTT
DPYD dihydropyrimidine dehydrogenase 1 p22 1 95 20 2017-07-29 DMB-p, DPDD, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 70 3 2017-09-01 MADD;GA-2B
GLB1 galactosidase, beta 1 3 p22.3 1 75 5 2017-09-01 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 12 q23.3 1 34 34 2017-06-30 ML-2;ICD, ML-3
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
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 31 2 2017-07-25 ID, Griscelli syndrome, type 1
NHLRC1 NHL repeat containing 1 6 p22.3 1 61 1 2017-09-01 epilepsy, myoclonic, of Lafora
NPHP4 nephronophthisis 4 1 p36 1 11 7 2017-06-30 NPHP-4, SLSN-4
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 234 146 2017-09-01 NPHS, NPHS-1
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 6 p21.2-p12 1 391 378 2017-07-31 ARPKD
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 239 67 2017-09-01 AATD, COPD
SFTPB surfactant protein B 2 p12-p11.2 1 1 1 2017-06-30 SMDP-1
SGSH N-sulfoglucosamine sulfohydrolase 17 q25.3 1 9 8 2017-06-30 MPS-3A
TSFM Ts translation elongation factor, mitochondrial 12 q14.1 1 4 4 2017-06-30 COXPD-3



Variants found

24 entries on 1 page. Showing entries 1 - 24.
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     
1 Unknown g.5924535G>C - - - NPHP4_000006 - - - Germline - - - 0 - Gerard C.P. Schaafsma HTT, NPHP4 -/- - - - - - - 2i, NM_002111.6:c.348-2680C=, NM_015102.2:c.3859C>G - - - r.(?) p.(=), p.(Gln1287Glu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.63872032T>C - - - ALG6_000005 - - - Germline - - - 0 - Gerard C.P. Schaafsma ALG6, PRKAR1A +?/+? - - - - - - 6, 9 NM_013339.3:c.391T>C, NM_002734.4:c.806A>G - - - r.(?), r.(806a>g) p.(Tyr131His), p.(Asp269Gly) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.97981395T>C - - - DPYD_000001 - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A +?/+? - - - - - - 11 NM_000110.3:c.1627A>G, NM_002734.4:c.1102C>T - - - r.(?) p.(Ile543Val), p.(Arg368*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.98165091T>C - - - DPYD_000002 - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - - NM_000110.3:c.496A>G - - - r.(?) p.(Met166Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.85892908C>T - - - SFTPB_000001 - - - Germline - - - - - Gerard C.P. Schaafsma SFTPB ?/. - - - - - - - NM_198843.2:c.439G>A - - - r.(?) p.(Gly147Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.33138549G>A - - - GLB1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma GLB1, TMPPE ./. - - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - - - r.(?), p.(Pro10Leu), - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.73992881A>G - - - HEXB_000001 - - - Germline - - - - - Gerard C.P. Schaafsma HEXB ?/. - - - - - - - NM_000521.3:c.619A>G - - - r.(?) p.(Ile207Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.18122506G>A - - - NHLRC1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.51612999C>A - - - PKHD1_000008 - - - Germline - - - - - Gerard C.P. Schaafsma PKHD1 ?/. - - - - - - - NM_138694.3:c.9415G>T - - - r.(?) p.(Asp3139Tyr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.117199646_117199648del - - - CFTR_000001 - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR ?/. - - - - - - 11 NM_000492.3:c.1521_1523del - - - r.(?) p.(Phe508del) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Both (homozygous) g.68705674C>A - - - IGHMBP2_000003 - - - Germline - - - 0 - Gerard C.P. Schaafsma IGHMBP2 ?/. - - - - - - 14 NM_002180.2:c.2636C>A - - - r.(?) p.(Thr879Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.58190244C>T - - - TSFM_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma TSFM ?/. - - - - - - 7 NM_001172696.1:c.919C>T - - - r.(?) p.(Gln307*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.102159900delG - - - GNPTAB_000002 - PubMed: Bell 2011 - Germline - - - 0 - Gerard C.P. Schaafsma GNPTAB +/. - - - - - - 12 NM_024312.4:c.1581delC - - - r.(?) p.(Cys528Valfs*19) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.102164858_102164859del - - - GNPTAB_000003 - - - Germline - - - 0 - Gerard C.P. Schaafsma GNPTAB +/. - - - - - - 8 NM_024312.4:c.848_849del - - - r.(?) p.(Gln283Hisfs*2) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.52515354A>G - - - ATP7B_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94847415A>G - - - SERPINA1_000002 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.710T>C - - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
15 Unknown g.52643564G>A - - - MYO5A_000001 - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A ?/. - - - - - - - NM_000259.3:c.3736C>T - - - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78187614C>T - - - SGSH_000003 - - - Germline - - - - - Gerard C.P. Schaafsma SGSH ?/. - - - - - - - NM_000199.3:c.734G>A - - - r.(?) p.(Arg245His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) g.36322601T>C - - - NPHS1_000002 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.3230A>G - - - r.(?) p.(Asn1077Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36339247C>T - - - NPHS1_000003 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.1223G>A - - - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.41512841G>T - 15631G>T - CYP2B6_000060 reference allele CYP2B6*7B - rs3745274 Germline - - - 0 - Johan den Dunnen CYP2B6 ?/. - - - - - - 4 NM_000767.4:c.516G>T CYP2B6*7B - - r.(=) p.(Gln172His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.41515263A>G - 18053A>G - CYP2B6_000040 reference allele CYP2B6*6B - rs2279343 Germline - - - 0 - Johan den Dunnen CYP2B6 +/. - - - - - - 5 NM_000767.4:c.785A>G CYP2B6*6B - - r.(?) p.(Lys262Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.41515263A>G - 18053A>G - CYP2B6_000040 reference allele CYP2B6*6C - rs2279343 Germline - - - 0 - Johan den Dunnen CYP2B6 +/. - - - - - - 5 NM_000767.4:c.785A>G CYP2B6*6C - - r.(?) p.(Lys262Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) g.51850290G>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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend