Screening #0000000008

Individual ID 00000008
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
ADA adenosine deaminase 20 q13.12 1 23 9 2017-09-01 Severe combined immunodeficiency due to ADA 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
FKTN fukutin 9 q31-q33 1 7 1 2017-07-25 CMD-1X, ID, LGMD-2, LGMD-2M;MDDGC-4, MDDGA-4;MEB;WWS, MDDGB-4
HESX1 HESX homeobox 1 3 p14.3 1 8 1 2017-07-31 ID, dysplasia, septo-optic
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 8 p11.1 1 133 54 2017-08-04 MPS-3C, RP-73
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 31 2 2017-07-25 ID, Griscelli syndrome, type 1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 234 146 2017-09-01 NPHS, NPHS-1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 239 67 2017-09-01 AATD, COPD
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 - PubMed: Bell 2011 - Germline - - - 0 - Johan den Dunnen USH2A ?/. - - - - - - 12 NM_206933.2:c.2137G>C - - - r.(?) p.(Gly713Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.57232504T>C - - - HESX1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma HESX1 ?/. - - - - - - - NM_003865.2:c.374A>G - - - r.(?) p.(Asn125Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.117251703C>T - - - CFTR_000124 - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR ?/. - - - - - - 20 NM_000492.3:c.3208C>T - - - r.(?) p.(Arg1070Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
8 Unknown g.43052839A>C - - - HGSNAT_000023 - - - Germline - - - - - Gerard C.P. Schaafsma HGSNAT ?/. - - - - - - - NM_152419.2:c.1567A>C - - - r.(?) p.(Lys523Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.108366499G>A - - - FKTN_000001 - - - Germline - - - - - Gerard C.P. Schaafsma FKTN ?/. - - - - - - - NM_001079802.1:c.373G>A - - - r.(?) p.(Gly125Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.52513266T>C - - - ATP7B_000002 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3620A>G - - - r.(?) p.(His1207Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.52515354A>G - - - ATP7B_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94847415A>G - - - SERPINA1_000002 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.710T>C - - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
15 Unknown g.52643564G>A - - - MYO5A_000001 - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A ?/. - - - - - - - NM_000259.3:c.3736C>T - - - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36322601T>C - - - NPHS1_000002 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.3230A>G - - - r.(?) p.(Asn1077Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) 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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Unknown g.43255220T>C - - - ADA_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - - NM_000022.2:c.239A>G - - - r.(?) p.(Lys80Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend