Screening #0000000025

Individual ID 00000025
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 16
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AMPD1 adenosine monophosphate deaminase 1 1 p13 1 8 5 2018-06-03 MMDD
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 269 130 2018-06-03 Wilson
ATR ataxia telangiectasia and Rad3 related 3 q22-q24 1 85 70 2018-06-03 ID, SCKL, SCKL-1, telangiectasia, cutaneous, and cancer syndrome, familial
CBS cystathionine-beta-synthase 21 q22.3 1 89 31 2018-06-03 CBSD, ID
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
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 255 167 2018-06-28 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
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
HBB hemoglobin, beta 11 p15.5 1 18928 255 2018-06-03 HBFQTL-1, MLRS, anemia, anemia, Heinz body, anemia, sickle cell (Hb SS disease), thalassemia, beta, thalassemia, beta, dominant inclusion body type
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 173 95 2018-06-03 CMT-2S, DSMA-1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 305 185 2018-06-03 NPHS, NPHS-1
PAH phenylalanine hydroxylase 12 q22-q24.2 1 175 144 2018-06-03 PKU
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



Variants found

16 entries on 1 page. Showing entries 1 - 16.
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.94505599C>T - - - ABCA4_000152 expression cloning midigene splicing construct: 0.109 correctly spliced RNA PubMed: Sangermano 2018 - - In vitro (cloned) - - - 0 - Frans Cremers ABCA4 +/. - - - - - 24 NM_000350.2:c.3607G>A - - - r.3523_3607del p.(Thr1176Metfs∗2) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma AMPD1, PRKAR1A +?/+? - - - - - 11 NM_000036.2:c.242C>T, NM_002734.4:c.1102C>T - - - r.(?), r.(1102c>u) p.(Pro81Leu), p.(Arg368*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.142274740del g.142555898del chr3:g.143757439del - ATR_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma ATR ?/. - - - - - - NM_001184.3:c.2320del - - - r.(?) p.(Ile774Tyrfs*5) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - 7 NM_000500.7:c.806G>C - - - r.(?) p.(Ser269Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.117267812T>G g.117627758T>G - - CFTR_000051 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR ?/. - - - - - 22 NM_000492.3:c.3705T>G - - - r.(?) p.(Ser1235Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.5248050C>T g.5226820C>T INTRON 1, IVS1+110G>A,CHR11:5204626G>A - HBB_001147 - - - - Germline - - - 0 - Gerard C.P. Schaafsma HBB ?/. - - - - - 1i NM_000518.4:c.93-21G>A - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.5248388G>C g.5227158G>C chr11:g.5204964 variant allele G - HBB_001080 - - - - Germline - - - 0 - Gerard C.P. Schaafsma HBB +?/. - - - - - _1 NM_000518.4:c.-137C>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown 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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.103238125del g.102844347del - - PAH_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma PAH ?/. - - - - - - NM_000277.1:c.1054del - - - r.(?) p.(Gly352Valfs*48) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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