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 9 3 2017-09-01 Medium-chain acyl-coenzyme A dehydrogenase deficiency
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 321 185 2017-06-30 BESC-1, CBAVD, CF, PCTT
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 70 3 2017-09-01 MADD;GA-2B
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
MEFV Mediterranean fever 16 p13.3 1 225 24 2017-08-28 FMF, FMFD
NHLRC1 NHL repeat containing 1 6 p22.3 1 61 1 2017-09-01 epilepsy, myoclonic, of Lafora
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 6 p21.2-p12 1 391 378 2017-07-31 ARPKD
RAPSN receptor-associated protein of the synapse 11 p11.2 1 18 17 2016-10-13 CMS-11, FADS
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 239 67 2017-09-01 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 67 33 2017-09-01 ACG-1B, AO-2, DTD, EDM-4
USH2A Usher syndrome 2A (autosomal recessive, mild) 1 q41 1 64 48 2017-07-30 RP-39, 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     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

Domain     

IDbase Accession Number     

VariO Annotation DNA level     

VariO Annotation protein level     

VariO Annotation RNA level     

Exon     

DNA change (cDNA)     

Haplotype     

Class.     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type     

Conservation     

CpG     

DB CrossRef     

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 - - - USH2A_000021 - - - Germline - - - 0 - Gerard C.P. Schaafsma USH2A ?/. - - - - - - 12 NM_206933.2:c.2137G>C - - - r.(?) p.(Gly713Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.33138549G>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), - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.149361221A>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 - - - NHLRC1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.51611651C>A - - - PKHD1_000004 - - - Germline - - - - - Gerard C.P. Schaafsma PKHD1 ?/. - - - - - - - NM_138694.3:c.9866G>T - - - r.(?) p.(Ser3289Ile) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.117232223C>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_000001 - - - Germline - - - - - Gerard C.P. Schaafsma RAPSN ?/. - - - - - - - NM_005055.3:c.264C>A - - - r.(?) p.(Asn88Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.52515354A>G - - - ATP7B_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94844843T>G - - - SERPINA1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.1200A>C - - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
15 Unknown g.35084729G>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 - - - MEFV_000009 - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV ?/. - - - - - - 10 NM_000243.2:c.2084A>G - - - r.(?) p.(Lys695Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.51850290G>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