Screening #0000000068

Individual ID 00000068
Template DNA
Technique SEQ-NG
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 71 46 2019-07-05 Severe combined immunodeficiency due to ADA deficiency
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 380 192 2019-07-05 Wilson
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 2 q33-q34 1 26 23 2019-06-28 PPH-1, Pulmonary veno-occlusive disease
CDH23 cadherin-related 23 10 q22.1 1 2279 768 2019-07-12 DFN, DFNB, DFNB-12, USH, USH-1, USH-1D
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 636 422 2019-07-05 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 6 q22-q23 1 100 42 2019-06-28 ARHR-2, COLED, GACI-1, NIDDM
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 86 15 2019-07-05 MADD
FKTN fukutin 9 q31-q33 1 327 127 2019-03-08 CMD-1X, ID, LGMD-2, LGMD-2M;MDDGC-4, MDDGA-4;MEB;WWS, MDDGB-4
HBB hemoglobin, beta 11 p15.5 1 18931 257 2019-07-05 HBFQTL-1, MLRS, anemia, anemia, Heinz body, anemia, sickle cell (Hb SS disease), thalassemia, beta, thalassemia, beta, dominant inclusion body type
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 8 p11.1 1 249 110 2019-07-12 MPS-3C, RP-73
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 366 199 2019-07-05 CMT-2S, DSMA-1
IVD isovaleryl-CoA dehydrogenase 15 q14-q15 1 33 30 2017-08-07 IVA
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1 p36.3 1 100 62 2019-07-14 NTDFS, SCZD, THPH-1, homocysteinemia, due to deficiency of MTHFR
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 88 55 2019-07-05 ID, Griscelli syndrome, type 1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 193 2019-07-05 NPHS, NPHS-1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 289 83 2019-07-05 AATD, COPD



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     

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     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
1 Unknown g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MTHFR ?/. - - - - - - NM_005957.4:c.1781G>A - - r.(?) p.(Arg594Gln) - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.203420712G>A g.202555989G>A - - BMPR2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma BMPR2 ?/. - - - - - 12 NM_001204.6:c.2324G>A - - r.(?) p.(Ser775Asn) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.32008862G>T g.32041085G>T - - CYP21A2_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - 10 NM_000500.7:c.1439G>T - - r.(?) p.(Arg480Leu) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.132198239C>G g.131877099C>G - - ENPP1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ENPP1 ?/. - - - - - - NM_006208.2:c.1831C>G - - r.(?) p.(Leu611Val) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.132201076G>A g.131879936G>A - - ENPP1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma ENPP1 ?/. - - - - - - NM_006208.2:c.2002G>A - - r.(?) p.(Glu668Lys) - - - - - - - - - - - - - - - - - - - - - - -
8 Unknown g.43052839A>C g.43197696A>C - - HGSNAT_000023 - - - - Germline - - - - - Gerard C.P. Schaafsma HGSNAT ?/. - - - - - - NM_152419.2:c.1567A>C - - r.(?) p.(Lys523Gln) - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.108366499G>A g.105604218G>A - - FKTN_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma FKTN ?/. - - - - - 6 NM_001079802.1:c.373G>A - - r.(?) p.(Gly125Ser) - - - - - - - - - - - - - - - - - - - - - - -
10 Unknown g.73490271A>G g.71730514A>G - - CDH23_000091 - - - - Germline - - - - - Gerard C.P. Schaafsma CDH23, HTT -/- - - - - - 2i NM_022124.5:c.3625A>G, NM_002111.6:c.348-2680C= - - r.(?) p.(Thr1209Ala), p.(=) - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.5248233C>T g.5227003C>T - - HBB_000679 - - - - Germline - - - 0 - Gerard C.P. Schaafsma HBB +?/. - - - - - 1 NM_000518.4:c.19G>A - - r.(?) p.(Glu7Lys) - - - - - - - - - - - - - - - - - - - - - - -
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 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 Both (homozygous) 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.40707154G>A g.40414955G>A - - IVD_000001 - - - - Unknown - - - - - Ivo F.A.C. Fokkema IVD ?/? - - - - - 8 NM_002225.3:c.860G>A - - r.(860g>a) p.(Arg287Gln) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
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.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.43249032G>A g.44620391G>A - - ADA_000028 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - NM_000022.2:c.986C>T - - r.(?) p.(Ala329Val) - - - - - - - - - - - - - - - - - - - - - - -
20 Unknown g.43251694C>T g.44623053C>T - - ADA_000022 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - NM_000022.2:c.632G>A - - r.(?) p.(Arg211His) - - - - - - - - - - - - - - - - - - - - - - -
Legend