Screening #0000000031

Individual ID 00000031
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 18
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 23 9 2017-09-01 Severe combined immunodeficiency due to ADA deficiency
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 24 6 2017-09-01 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
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
FKTN fukutin 9 q31-q33 1 7 1 2017-07-25 CMD-1X, ID, LGMD-2, LGMD-2M;MDDGC-4, MDDGA-4;MEB;WWS, MDDGB-4
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
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 65 21 2017-09-01 CMT-2S, DSMA-1
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
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 239 67 2017-09-01 AATD, COPD
TMEM67 transmembrane protein 67 8 q22.1 1 58 48 2017-05-26 BBS-1, COACH, ID, JBTS-1, JBTS-6, MKS-3, NPHP-11
WNT10A wingless-type MMTV integration site family, member 10A 2 q35 1 71 10 2017-05-26 OODD, SSPS, STHAG-4



Variants found

18 entries on 1 page. Showing entries 1 - 18.
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.97981395T>C - - - DPYD_000001 - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A +?/+? - - - - - - 9 NM_000110.3:c.1627A>G, NM_002734.4:c.854A>G - - - r.(?), r.(854a>g) p.(Ile543Val), p.(Gln285Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.219755011T>A - - - WNT10A_000001 - - - Germline - - - - - Gerard C.P. Schaafsma WNT10A ?/. - - - - - - - NM_025216.2:c.682T>A - - - r.(?) p.(Phe228Ile) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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), - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.32007849G>C - - - CYP21A2_000001 - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - - 7 NM_000500.7:c.806G>C - - - r.(?) p.(Ser269Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
8 Unknown g.94807731T>C - - - TMEM67_000001 - - - Unknown - - - 0 - Gerard C.P. Schaafsma TMEM67 ?/. - - - - - - 17 NM_153704.5:c.1769T>C - - - r.(?) p.(Phe590Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.108366499G>A - - - FKTN_000001 - - - Germline - - - - - Gerard C.P. Schaafsma FKTN ?/. - - - - - - - NM_001079802.1:c.373G>A - - - r.(?) p.(Gly125Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.52515354A>G - - - ATP7B_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.100763477_100768245del - - - PCCA_000013 expression cloning, no enzyme activity {PMID19157943:Desviat 2009} - In vitro (cloned) - - - 0 - Johan den Dunnen PCCA +/. - - - - - - 2i_4i NM_000282.3:c.184-618_300+3930del - - - - p.Thr62_Ser100del - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94847415A>G - - - SERPINA1_000002 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.710T>C - - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78078341T>G - - - GAA_000029 - - - Germline - - - - - Gerard C.P. Schaafsma GAA ?/. - - - - - - 1i NM_000152.3:c.-32-13T>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78092054del - - - GAA_000182 - - - Germline - - - - - Gerard C.P. Schaafsma GAA ?/. - - - - - - 18 NM_000152.3:c.2544del - - - r.(?) p.(Lys849Argfs*38) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78092054del - - - GAA_000182 Authors description: g.75706649_75706650; mutant allele C; not known correct genotype; undefined second mutation in affected CHT - - Germline - - - - - Gerard C.P. Schaafsma GAA ?/. - - - - - - 18 NM_000152.3:c.2544del - - - r.(?) p.(Lys849Argfs*38) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36330277C>G - - - NPHS1_000004 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.2971G>C - - - r.(?) p.(Val991Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown 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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Unknown g.43255220T>C - - - ADA_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - - NM_000022.2:c.239A>G - - - r.(?) p.(Lys80Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend