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 1 115 19 2017-10-24 Wilson
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 409 356 2017-11-10 BESC-1, CBAVD, CF, PCTT
DPYD dihydropyrimidine dehydrogenase 1 p22 1 97 22 2017-10-24 DMB-p, DPDD, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 70 3 2017-10-24 MADD;GA-2B
GLB1 galactosidase, beta 1 3 p22.3 1 77 6 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 35 35 2017-06-30 ML-2;ICD, ML-3
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
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 2017-10-24 epilepsy, myoclonic, of Lafora
NPHP4 nephronophthisis 4 1 p36 1 15 11 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 2017-10-24 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 18 13 2017-12-05 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     

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.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 g.63406361T>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 g.97515839T>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 g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - NM_000110.3:c.496A>G - - - r.(?) p.(Met166Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.85892908C>T g.85665785C>T - - SFTPB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SFTPB ?/. - - - - - - NM_198843.2:c.439G>A - - - r.(?) p.(Gly147Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) 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.(?), p.(Pro10Leu), - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.51612999C>A g.51748201C>A - - PKHD1_000008 - - - - Germline - - - - - Gerard C.P. Schaafsma PKHD1 ?/. - - - - - - NM_138694.3:c.9415G>T - - - r.(?) p.(Asp3139Tyr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.117199646_117199648del g.117559592_117559594del - - 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 g.68938206C>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 g.57796461C>T - - TSFM_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma TSFM ?/. - - - - - 7 NM_001172696.1:c.919C>T - - - r.(?) p.(Gln307*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.102159900delG g.101766122delG - - 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 g.101771080_101771081del - - 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 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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
15 Unknown g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A ?/. - - - - - - NM_000259.3:c.3736C>T - - - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78187614C>T g.80213815C>T - - SGSH_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SGSH ?/. - - - - - - NM_000199.3:c.734G>A - - - r.(?) p.(Arg245His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) g.36322601T>C g.35831699T>C - - NPHS1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.3230A>G - - - r.(?) p.(Asn1077Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.1223G>A - - - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.41512841G>T g.41006936G>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 g.41009358A>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 g.41009358A>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 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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend