Screening #0000000100

Individual ID 00000100
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 12
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 9 q34 1 81 61 2018-11-08 TTP
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 284 145 2019-06-10 Wilson
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 650 455 2018-12-08 BESC-1, CBAVD, CF, PCTT
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 79 10 2019-06-07 MADD
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 2 p23 1 9 5 2019-06-07 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, mitochondrial trifunctional protein deficiency (MTPD)
HESX1 HESX homeobox 1 3 p14.3 1 17 8 2018-11-08 ID, dysplasia, septo-optic
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 8 p11.1 1 211 92 2019-06-07 MPS-3C, RP-73
LAMA2 laminin, alpha 2 6 q22-q23 1 1935 563 2019-06-07 ID, MDC, MDC-1A
NHLRC1 NHL repeat containing 1 6 p22.3 1 73 10 2019-06-07 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 308 186 2019-06-07 NPHS, NPHS-1
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 6 p21.2-p12 1 472 431 2018-11-20 ARPKD
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 260 75 2019-06-10 AATD, COPD



Variants found

12 entries on 1 page. Showing entries 1 - 12.
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     
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 Both (homozygous) 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.51917987G>C g.52053189G>C - - PKHD1_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma PKHD1 ?/. - - - - - 21 NM_138694.3:c.2027C>G - - r.(?) p.(Pro676Arg) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - Gerard C.P. Schaafsma LAMA2 ?/. - - - - - 24 NM_000426.3:c.3412G>A - - r.(?) p.(Val1138Met) - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.117180284C>T g.117540230C>T - - CFTR_000026 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR ?/. - - - - - 8 NM_000492.3:c.1000C>T - VUS r.(?) p.(Arg334Trp) - - - - - - - - - - - - - - - - - - - - - - -
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.136319562T>G - - - ADAMTS13_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma ADAMTS13 ?/. - - - - - - NM_139025.3:c.3070T>G - - r.(?) p.(Cys1024Gly) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
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.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