Screening #0000000005

Individual ID 00000005
Template DNA
Technique NGS
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
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1 p31 1 13 5 2017-09-01 Medium-chain acyl-coenzyme A dehydrogenase deficiency
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 269 130 2018-06-03 Wilson
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 650 455 2018-06-29 BESC-1, CBAVD, CF, PCTT
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 76 7 2018-06-03 MADD;GA-2B
GLB1 galactosidase, beta 1 3 p22.3 1 115 34 2018-06-03 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
MEFV Mediterranean fever 16 p13.3 1 527 284 2018-06-03 FMF, FMFD
NHLRC1 NHL repeat containing 1 6 p22.3 1 73 10 2018-06-03 epilepsy, myoclonic, of Lafora
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 6 p21.2-p12 1 473 431 2018-06-21 ARPKD
RAPSN receptor-associated protein of the synapse 11 p11.2 1 50 35 2018-04-06 CMS-11, FADS
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 261 75 2018-06-03 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 90 42 2018-06-03 ACG-1B, AO-2, DTD, EDM-4
USH2A Usher syndrome 2A (autosomal recessive, mild) 1 q41 1 9417 1407 2018-07-20 RP, RP-39, USH, USH-2, USH-2A



Variants found

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

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.76199277A>C - - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ACADM ?/. - - - - - - NM_000016.4:c.351A>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.(?), r.(=) p.(Pro10Leu), p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 ?/. - - - - - 3 NM_000112.3:c.2065A>T - - - r.(?) p.(Thr689Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.51611651C>A g.51746853C>A - - PKHD1_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma PKHD1 ?/. - - - - - - NM_138694.3:c.9866G>T - - - r.(?) p.(Ser3289Ile) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.117232223C>T g.117592169C>T - - CFTR_000059 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR ?/. - - - - - 14 NM_000492.3:c.2002C>T - - - r.(?) p.(Arg668Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.47469631G>T - - - RAPSN_000071 - - - - Germline - - - - - Gerard C.P. Schaafsma RAPSN ?/. - - - - - - NM_005055.3:c.264C>A - - - r.(?) p.(Asn88Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.1200A>C - - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
15 Unknown g.35084729G>C g.34792528G>C - - ACTC1_000002 expression cloning yeast; no difference compared to wild-type PubMed: Wong 2001 - - In vitro (cloned) - - - 0 - Johan den Dunnen ACTC1 -?/. - - - - - 4 NM_005159.4:c.496C>G - - - - p.Pro166Ala - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.3293403T>C g.3243403T>C - - MEFV_000009 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV ?/. - - - - - 10 NM_000243.2:c.2084A>G - - - r.(?) p.(Lys695Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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