Screening #0000000076

Individual ID 00000076
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 17
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide 19 q13.1-q13.2 1 3 3 2017-05-26 ID, MUSD
FKRP fukutin related protein 19 q13.3 1 23 15 2017-09-01 ID, LGMD-2, LGMD-2I;MDDGC-5, MDDGA-5, MDDGB-6
GAA glucosidase, alpha; acid 17 q25.2-q25.3 1 370 219 2017-08-10 GSD-2
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
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 5 q2 1 7 7 2016-11-10 DBPD, ID, PRLTS
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 65 21 2017-09-01 CMT-2S, DSMA-1
MEFV Mediterranean fever 16 p13.3 1 225 24 2017-08-28 FMF, FMFD
NHLRC1 NHL repeat containing 1 6 p22.3 1 61 1 2017-09-01 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 234 146 2017-09-01 NPHS, NPHS-1
PMM2 phosphomannomutase 2 16 p13 1 12 6 2017-05-26 CDG-1A, ID
POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1 p34.1 1 56 55 2017-05-05 ID, LGMD-2O;MDDGC-3, MDDGA-3;MEB;WWS, MDDGB-3
PPT1 palmitoyl-protein thioesterase 1 1 p32 1 305 70 2017-08-08 CLN, CLN-1
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



Variants found

17 entries on 1 page. Showing entries 1 - 17.
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.40557070T>A - - - PPT1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma PPT1 ?/. - - - - - - - NM_000310.3:c.364A>T - - - r.(?) p.(Arg122Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.40558179C>T - - - PPT1_000002 - - - Germline - - - - - Gerard C.P. Schaafsma PPT1 ?/. - - - - - - - NM_000310.3:c.125G>A - - - r.(?) p.(Gly42Glu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.46655645C>T - - - POMGNT1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma POMGNT1 ?/. - - - - - - - NM_017739.3:c.1666G>A - - - r.(?) p.(Asp556Asn) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown 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.118829596A>T - - - HSD17B4_000001 - - - Unknown - - - 0 - Gerard C.P. Schaafsma HSD17B4 ?/. - - - - - - 11 NM_000414.3:c.823A>T - - - r.(?) p.(Lys275*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 ?/. - - - - - - 3 NM_000112.3:c.2065A>T - - - r.(?) p.(Thr689Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.18122506G>A - - - NHLRC1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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 Both (homozygous) 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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.3304463C>T - - - MEFV_000001 - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV ?/. - - - - - - 2 NM_000243.2:c.605G>A - - - r.(?) p.(Arg202Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.8906914A>C - - - PMM2_000049 - PubMed: Bell 2011 - Germline - - - 0 - Gerard C.P. Schaafsma PMM2 ?/. - - - - - - 7 NM_000303.2:c.590A>C - - - r.(?) p.(Glu197Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78078910del - - - GAA_000028 - - - Germline - - - - - Gerard C.P. Schaafsma GAA ?/. - - - - - - 2 NM_000152.3:c.525del - - - r.(?) p.(Glu176Argfs*45) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36322601T>C - - - NPHS1_000002 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.3230A>G - - - r.(?) p.(Asn1077Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.349G>A - - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.41920030C>T - - - BCKDHA_000002 - - - Germline - - - - - Gerard C.P. Schaafsma BCKDHA ?/. - - - - - - - NM_000709.3:c.452C>T - - - r.(?) p.(Thr151Met) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.47259048C>G - - - FKRP_000016 - - - Germline - - - 0 - Gerard C.P. Schaafsma FKRP ?/. - - - - - - 4 NM_024301.4:c.341C>G - - - r.(?) p.(Ala114Gly) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend