Screening #0000000078

Individual ID 00000078
Template DNA
Technique NGS
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
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 113 19 2017-10-24 Wilson
CDH23 cadherin-related 23 10 q22.1 1 28 18 2017-10-24 DFNB-12, USH-1D
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 394 349 2017-11-10 BESC-1, CBAVD, CF, PCTT
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 70 3 2017-10-24 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
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 69 23 2017-09-01 CMT-2S, DSMA-1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 234 146 2017-09-01 NPHS, NPHS-1
PMM2 phosphomannomutase 2 16 p13 1 13 7 2017-05-26 CDG-1A, ID
POLG polymerase (DNA directed), gamma 15 q24 2 55 47 2017-07-10 MTDPS-4A, MTDPS-4B, PEOA-1, PEOB-1, SANDO
RAG1 recombination activating gene 1 11 p13 1 12 10 2018-01-13 CCHIDG, Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, Omenn syndrome, Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 239 67 2017-10-24 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



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     

Germline/Somatic/De novo     

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     

Class.     

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     
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.(?), p.(Pro10Leu), - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR ?/. - - - - - 11 NM_000492.3:c.1521_1523del - - - r.(?) p.(Phe508del) - - - - - - - - - - - - - - - - - - - - - - - - - - -
10 Unknown g.73490271A>G g.71730514A>G - - CDH23_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CDH23 ?/. - - - - - - NM_022124.5:c.3625A>G - - - r.(?) p.(Thr1209Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.36596200G>A g.36574650G>A - - RAG1_000021 - - - - Germline - - - - - Gerard C.P. Schaafsma RAG1 ?/. - - - - - - NM_000448.2:c.1346G>A - - - r.(?) p.(Arg449Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Both (homozygous) g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma IGHMBP2 ?/. - - - - - 14 NM_002180.2:c.2636C>A - - - r.(?) p.(Thr879Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
15 Unknown g.89861826T>C g.89318595T>C - - POLG_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma POLG ?/. - - - - - - NM_001126131.1:c.3428A>G, NM_002693.2:c.3428A>G - - - r.(?) p.(Glu1143Gly) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.8906914A>C g.8813057A>C - - PMM2_000049 - PubMed: Bell 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma PMM2 ?/. - - - - - 7 NM_000303.2:c.590A>C - - - r.(?) p.(Glu197Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.349G>A - - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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