Screening #0000000070

Individual ID 00000070
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 10
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ACADSB acyl-CoA dehydrogenase, short/branched chain 10 q25-q26 1 49 16 2018-10-12 SBCADD
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 380 191 2019-07-05 Wilson
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 712 473 2019-08-09 BESC-1, CBAVD, CF, PCTT
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 86 15 2019-07-05 MADD
HBA1 hemoglobin, alpha 1 16 p13.3 1 62 21 2017-06-02 anemia, Heinz body, hemoglobin H disease, thalassemia, alpha
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 366 199 2019-07-05 CMT-2S, DSMA-1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1 p36.3 1 101 63 2019-09-27 NTDFS, SCZD, THPH-1, homocysteinemia, due to deficiency of MTHFR
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 88 55 2019-07-05 ID, Griscelli syndrome, type 1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 289 83 2019-07-28 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 106 52 2019-07-05 ACG, ACG-1B, AO-2, DTD, EDM-4



Variants found

10 entries on 1 page. Showing entries 1 - 10.
Legend  

Chr     

Allele     

Effect     

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
1 Unknown ?/. g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma FAM20C, MTHFR - - - - - - NM_020223.3:c.117A>T, NM_005957.4:c.1781G>A - VUS, r.(?) p.(=), p.(Arg594Gln) - - - - - - - - - - - - - - - - - - -
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.117227874A>G g.117587820A>G - - CFTR_001017 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR - - - - - 12 NM_000492.3:c.1666A>G - VUS r.(?) p.(Ile556Val) - - - - - - - - - - - - - - - - - - -
10 Unknown ?/. g.124800835G>A g.123041319G>A - - ACADSB_000013 - - - - Germline - - - 0 - Gerard C.P. Schaafsma ACADSB - - - - - 5 NM_001609.3:c.621G>A - - r.(?) p.(Trp207*) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
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.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A - - - - - - NM_000259.3:c.3736C>T - - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HBA1, HBA2, HBM, HBQ1, HBZ - - - - - _1_3_ NM_000558.3:c.-37-u25059_*110+d4774del, NM_000517.4:c.-21292_*8695del, NM_001003938.3:c.-14377_*15587del, NM_005331.4:c.-28866_*1187del, NM_005332.2:c.-1289_*27895del - - r.(?), r.? p.? - - - - - - - - - - - - - - - - - - -
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