Screening #0000000014

Individual ID 00000014
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 22
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ALG6 asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) 1 p31.3 1 41 18 2019-08-01 CDG-1C, ID
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 392 198 2019-07-05 Wilson
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 726 479 2019-10-23 BESC-1, CBAVD, CF, PCTT
DPYD dihydropyrimidine dehydrogenase 1 p22 1 180 48 2019-07-20 DMB-p, DPDD, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 83 14 2019-07-05 MADD
GLB1 galactosidase, beta 1 3 p22.3 1 186 77 2019-09-30 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 12 q23.3 1 340 314 2019-07-05 ML, ML-2;ICD, ML-3
HEXB hexosaminidase B (beta polypeptide) 5 q13.3 1 78 37 2019-07-05 Sandhoff
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 367 199 2019-07-05 CMT-2S, DSMA-1
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 85 52 2019-07-05 ID, Griscelli syndrome, type 1
NHLRC1 NHL repeat containing 1 6 p22.3 1 77 14 2019-07-05 epilepsy, myoclonic, of Lafora
NPHP4 nephronophthisis 4 1 p36 1 200 143 2019-07-17 NPHP-4, SLSN-4
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 193 2019-07-05 NPHS, NPHS-1
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 6 p21.2-p12 1 542 473 2019-07-05 ARPKD
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 293 80 2019-07-28 AATD, COPD
SFTPB surfactant protein B 2 p12-p11.2 1 5 5 2019-06-28 SMDP-1
SGSH N-sulfoglucosamine sulfohydrolase 17 q25.3 1 156 121 2019-06-28 MPS-3A
TSFM Ts translation elongation factor, mitochondrial 12 q14.1 1 9 9 2019-06-28 COXPD-3



Variants found

22 entries on 1 page. Showing entries 1 - 22.
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.5924535G>C - - - NPHP4_000006 - - - - Germline - - - 0 - Gerard C.P. Schaafsma HTT, NPHP4 - - - - - 2i, NM_002111.6:c.348-2680C=, NM_015102.4:c.3859C>G - - r.(?) p.(=), p.(Gln1287Glu) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma ALG6, PRKAR1A - - - - - 6, 9 NM_013339.3:c.391T>C, NM_002734.4:c.806A>G - - r.(?), r.(806a>g) p.(Tyr131His), p.(Asp269Gly) - - - - - - - - - - - - - - - - - - -
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*) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD - - - - - - NM_000110.3:c.496A>G - - r.(?) p.(Met166Val) - - - - - - - - - - - - - - - - - - -
2 Unknown ?/. g.85892908C>T g.85665785C>T - - SFTPB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SFTPB - - - - - - NM_198843.2:c.439G>A - - r.(?) p.(Gly147Ser) - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) ?/. g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma GLB1, TMPPE - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - - r.(?), r.(=) p.(Pro10Leu), 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) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 - - - - - - NM_198586.2:c.332C>T - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. g.51612999C>A g.51748201C>A - - PKHD1_000008 - - - - Germline - - - - - Gerard C.P. Schaafsma PKHD1 - - - - - - NM_138694.3:c.9415G>T - - r.(?) p.(Asp3139Tyr) - - - - - - - - - - - - - - - - - - -
7 Unknown ?/. g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR - - - - - 11 NM_000492.3:c.1521_1523del - VUS r.(?) p.(Phe508del) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/? g.118896010C>A - - - SLC37A4_000011 - {dbSNP80356490} - - Unknown - - - 0 - - SLC37A4 - - - - - 9 NM_001164277.1:c.1015G>T - - r.(?) p.(Gly339Cys) - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. g.58190244C>T g.57796461C>T - - TSFM_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma TSFM - - - - - 7 NM_001172696.1:c.919C>T - - r.(?) p.(Gln307*) - - - - - - - - - - - - - - - - - - -
12 Unknown +/. g.102159900delG g.101766122delG - - GNPTAB_000002 - PubMed: Bell 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma GNPTAB - - - - - 12 NM_024312.4:c.1581delC - - r.(?) p.(Cys528Valfs*19) - - - - - - - - - - - - - - - - - - -
12 Unknown +/. g.102164858_102164859del g.101771080_101771081del - - GNPTAB_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma GNPTAB - - - - - 8 NM_024312.4:c.848_849del - - r.(?) p.(Gln283Hisfs*2) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.78187614C>T g.80213815C>T - - SGSH_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SGSH - - - - - - NM_000199.3:c.734G>A - - r.(?) p.(Arg245His) - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) ?/. g.36322601T>C g.35831699T>C - - NPHS1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.3230A>G - - r.(?) p.(Asn1077Ser) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.1223G>A - - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - - - - - - -
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