Screening #0000000037

Individual ID 00000037
Template DNA
Technique SEQ-NG
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
ATM ataxia telangiectasia mutated 11 q22-q23 1 2704 1314 2019-09-10 AT, cancer, breast, familial
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 380 191 2019-07-05 Wilson
DPYD dihydropyrimidine dehydrogenase 1 p22 1 177 46 2019-07-20 DMB-p, DPDD, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 86 15 2019-07-05 MADD
HEXB hexosaminidase B (beta polypeptide) 5 q13.3 1 75 35 2019-07-05 Sandhoff
NHLRC1 NHL repeat containing 1 6 p22.3 1 77 14 2019-07-05 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 192 2019-07-05 NPHS, NPHS-1
SBDS Shwachman-Bodian-Diamond syndrome 7 q11.22 1 36 14 2019-07-05 anemia, Shwachman syndrome
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
SLC3A1 solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 2 p16.3 1 49 41 2019-07-05 CSNU
SMN1 survival of motor neuron 1, telomeric 5 q13.2 1 185 76 2019-07-05 SMA-1, SMA-2, SMA-3, SMA-4
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 215 143 2019-07-05 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B



Variants found

13 entries on 1 page. Showing entries 1 - 13.
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.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A - - - - - 11 NM_000110.3:c.1627A>G, NM_002734.4:c.1102C>T - - r.(?) p.(Ile543Val), p.(Arg368*) - - - - - - - - - - - - - - - - - - -
2 Unknown ?/. g.44513202T>C g.44286063T>C - - SLC3A1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SLC3A1 - - - - - - NM_000341.3:c.797T>C - - r.(?) p.(Phe266Ser) - - - - - - - - - - - - - - - - - - -
5 Unknown +/. g.70241893_70247821del - del exons 7 and 8 - SMN1_000050 - PubMed: Bell 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma SMN1 - - - - - 6i_8i NM_000344.3:c.(723+1_724-1)_(*3+1_*4-1)del - - r.(del) p.? - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. g.73992881A>G g.74697056A>G - - HEXB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HEXB - - - - - 5 NM_000521.3:c.619A>G - - r.(?) p.(Ile207Val) - - - - - - - - - - - - - - - - - - -
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 Both (homozygous) ?/. g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 - - - - - - NM_198586.2:c.332C>T - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - -
7 Unknown ?/. g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SBDS - - - - - - NM_016038.2:c.635T>C - - r.(?) p.(Ile212Thr) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. g.6415463G>A - - - SMPD1_000101 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SMPD1 - - - - - - NM_000543.3:c.1522G>A - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. g.108098576C>G g.108227849C>G - - ATM_000007 - - - - Germline - - - - - Gerard C.P. Schaafsma ATM - - - - - - NM_000051.3:c.146C>G - VUS r.(?) p.(Ser49Cys) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/. g.52513266T>C g.51939130T>C - - ATP7B_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B - - - - - - NM_000053.3:c.3620A>G - - r.(?) p.(His1207Arg) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/. g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B - - - - - - NM_000053.3:c.3419T>C - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. g.36322601T>C g.35831699T>C - - NPHS1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.3230A>G - - r.(?) p.(Asn1077Ser) - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) ?/. 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