Screening #0000000033

Individual ID 00000033
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 13
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 1 380 191 2019-07-05 Wilson
CDH23 cadherin-related 23 10 q22.1 1 2279 766 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
DPYD dihydropyrimidine dehydrogenase 1 p22 1 177 46 2019-07-20 DMB-p, DPDD, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 86 15 2019-07-05 MADD
GAA glucosidase, alpha; acid 17 q25.2-q25.3 1 2790 752 2019-07-18 GSD-2
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 2 p23 1 21 16 2019-07-05 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, mitochondrial trifunctional protein deficiency (MTPD)
HESX1 HESX homeobox 1 3 p14.3 1 22 11 2018-11-08 ID, dysplasia, septo-optic
NHLRC1 NHL repeat containing 1 6 p22.3 1 77 14 2019-07-05 epilepsy, myoclonic, of Lafora
PHEX phosphate regulating endopeptidase homolog, X-linked X p22.2-p22.1 1 55 47 2019-07-12 XLHR
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 289 83 2019-07-28 AATD, COPD
USH2A Usher syndrome 2A (autosomal recessive, mild) 1 q41 1 9865 1489 2019-07-26 RP, RP-39, USH, USH-2, USH-2A



Variants found

13 entries on 1 page. Showing entries 1 - 13.
Legend  

Chr     

Allele     

Effect     

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     

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     

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 level     
1 Unknown ?/. g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A - - - - - 11 NM_000110.3:c.1627A>G, NM_002734.4:c.983C>T - - r.(?) p.(Ile543Val), p.(Ala328Val) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. g.216424275C>G g.216250933C>G - - USH2A_000021 - - - - Germline - - - 0 - Gerard C.P. Schaafsma USH2A - - - - - 12 NM_206933.2:c.2137G>C - - r.(?) p.(Gly713Arg) - - - - - - - - - - - - - - - - - - -
2 Unknown ?/. g.26432662G>T g.26209793G>T - - HADHA_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HADHA - - - - - - NM_000182.4:c.1072C>A - - r.(?) p.(Gln358Lys) - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. g.57232504T>C g.57198476T>C - - HESX1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HESX1 - - - - - - NM_003865.2:c.374A>G - - r.(?) p.(Asn125Ser) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
10 Unknown ?/. g.73490271A>G g.71730514A>G - - CDH23_000091 - - - - Germline - - - - - Gerard C.P. Schaafsma CDH23 - - - - - - NM_022124.5:c.3625A>G - - r.(?) p.(Thr1209Ala) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/- g.32972626A>T g.32398489A>T 10204A>T (K3326X) - BRCA2_000481 - PubMed: Torres 2007 - - Germline - 1/53 cases - 0 - Johan den Dunnen BRCA2 - - - - - 27 NM_000059.3:c.9976A>T - VUS r.(?) p.(Lys3326*) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.78086721C>A g.80112922C>A - - GAA_000020 - - - - Germline - - - - - Gerard C.P. Schaafsma GAA - - - - - 14 NM_000152.3:c.1935C>A - VUS r.(?) p.(Asp645Glu) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.78092070C>T g.80118271C>T - - GAA_000025 - - - - Germline - - - - - Gerard C.P. Schaafsma GAA - - - - - 18 NM_000152.3:c.2560C>T - VUS r.(?) p.(Arg854*) - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) ?/. 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) - - - - - - - - - - - - - - - - - - -
Legend