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 1 269 130 2018-06-03 Wilson
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide 19 q13.1-q13.2 1 30 23 2018-06-03 ID, MUSD
FKRP fukutin related protein 19 q13.3 1 697 174 2018-02-05 ID, LGMD-2, LGMD-2I;MDDGC-5, MDDGA-5, MDDGB-6
GAA glucosidase, alpha; acid 17 q25.2-q25.3 1 586 324 2018-06-03 GSD-2
GLB1 galactosidase, beta 1 3 p22.3 1 115 34 2018-06-03 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 5 q2 1 27 18 2016-11-10 DBPD, ID, PRLTS
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 173 95 2018-06-03 CMT-2S, DSMA-1
MEFV Mediterranean fever 16 p13.3 1 527 284 2018-06-03 FMF, FMFD
NHLRC1 NHL repeat containing 1 6 p22.3 1 73 10 2018-06-03 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 305 185 2018-06-03 NPHS, NPHS-1
PMM2 phosphomannomutase 2 16 p13 1 53 29 2018-06-03 CDG-1A, ID
POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1 p34.1 1 319 126 2018-02-05 ID, LGMD-2O;MDDGC-3, MDDGA-3;MEB;WWS, MDDGB-3
PPT1 palmitoyl-protein thioesterase 1 1 p32 1 334 83 2018-03-09 CLN, CLN-1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 261 75 2018-06-03 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 90 42 2018-06-03 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     

ClinVar ID     

dbSNP ID     

Origin     

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     

ClassClinical     

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.40557070T>A g.40091398T>A - - PPT1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma PPT1 ?/. - - - - - - NM_000310.3:c.364A>T - - - r.(?) p.(Arg122Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.40558179C>T g.40092507C>T - - PPT1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma PPT1 ?/. - - - - - - NM_000310.3:c.125G>A - - - r.(?) p.(Gly42Glu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.46655645C>T g.46189973C>T - - POMGNT1_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma POMGNT1 ./. - - - - - - NM_001243766.1:c.1666G>A - - - r.(?) p.(Asp556Asn) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown 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.(?), r.(=) p.(Pro10Leu), p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.118829596A>T g.119493901A>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 g.149981658A>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 g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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 Both (homozygous) 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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.3304463C>T g.3254463C>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 g.8813057A>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 g.80105111del - - GAA_000028 - - - - Germline - - - - - Gerard C.P. Schaafsma GAA ?/. - - - - - 2 NM_000152.3:c.525del - - - r.(?) p.(Glu176Argfs*45) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown 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.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.349G>A - - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.41920030C>T g.41414125C>T - - BCKDHA_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma BCKDHA ?/. - - - - - - NM_000709.3:c.452C>T - - - r.(?) p.(Thr151Met) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.47259048C>G g.46755791C>G - - FKRP_000016 - - - - Germline - - - 0 - Gerard C.P. Schaafsma FKRP ?/. - - - - - 4 NM_024301.4:c.341C>G - - - r.(?) p.(Ala114Gly) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend