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 24 10 2018-01-13 Severe combined immunodeficiency due to ADA deficiency
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 113 19 2017-10-24 Wilson
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 24 6 2017-10-24 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
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
FKTN fukutin 9 q31-q33 1 13 4 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 1 391 230 2017-10-24 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 69 23 2017-09-01 CMT-2S, DSMA-1
NHLRC1 NHL repeat containing 1 6 p22.3 1 61 1 2017-10-24 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 2017-10-24 AATD, COPD
TMEM67 transmembrane protein 67 8 q22.1 1 66 55 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 72 11 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     

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.97981395T>C g.97515839T>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 g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - NM_000110.3:c.496A>G - - - r.(?) p.(Met166Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.219755011T>A g.218890289T>A - - WNT10A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma WNT10A ?/. - - - - - - NM_025216.2:c.682T>A - - - r.(?) p.(Phe228Ile) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.(?), p.(Pro10Leu), - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - 7 NM_000500.7:c.806G>C - - - r.(?) p.(Ser269Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
8 Unknown g.94807731T>C g.93795503T>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 g.105604218G>A - - FKTN_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma FKTN ?/. - - - - - - NM_001079802.1:c.373G>A - - - r.(?) p.(Gly125Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.100763477_100768245del g.100111223_100115991del - - 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 g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.710T>C - - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78078341T>G g.80104542T>G - - GAA_000029 - - - - Germline - - - - - Gerard C.P. Schaafsma GAA ?/. - - - - - 1i NM_000152.3:c.-32-13T>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78092054del g.80118255del - - GAA_000182 - - - - Germline - - - - - Gerard C.P. Schaafsma GAA ?/. - - - - - 18 NM_000152.3:c.2544del - - - r.(?) p.(Lys849Argfs*38) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78092054del g.80118255del - - 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 g.35839375C>G - - NPHS1_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.2971G>C - - - r.(?) p.(Val991Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown 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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - NM_000022.2:c.239A>G - - - r.(?) p.(Lys80Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend