Screening #0000000046

Individual ID 00000046
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 14
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AGXT alanine-glyoxylate aminotransferase 2 q37.3 1 22 19 2018-11-08 HP-1
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 1 713 473 2019-10-23 BESC-1, CBAVD, CF, PCTT
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 2 q33-qter 1 139 99 2019-07-15 xanthomatosis, cerebrotendinous
DPYD dihydropyrimidine dehydrogenase 1 p22 1 177 46 2019-07-20 DMB-p, DPDD, ID
EHMT1 euchromatic histone-lysine N-methyltransferase 1 9 - 1 134 114 2019-03-01 ID, Kleefstra
GLB1 galactosidase, beta 1 3 p22.3 1 185 75 2019-09-30 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 366 199 2019-07-05 CMT-2S, DSMA-1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 192 2019-07-05 NPHS, NPHS-1
POLG polymerase (DNA directed), gamma 15 q24 2 330 195 2019-08-13 MTDPS-4A, MTDPS-4B, PEOA-1, PEOB-1, SANDO
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 289 83 2019-07-28 AATD, COPD
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

14 entries on 1 page. Showing entries 1 - 14.
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 - - - - - - NM_000110.3:c.1627A>G - - r.(?) p.(Ile543Val) - - - - - - - - - - - - - - - - - - -
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.219678877C>T g.218814154C>T - - CYP27A1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP27A1 - - - - - - NM_000784.3:c.1151C>T - - r.(?) p.(Pro384Leu) - - - - - - - - - - - - - - - - - - -
2 Unknown ?/. g.241808308C>A g.240868891C>A - - AGXT_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma AGXT - - - - - - NM_000030.2:c.26C>A - - r.(?) p.(Thr9Asn) - - - - - - - - - - - - - - - - - - -
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.(=) - - - - - - - - - - - - - - - - - - -
7 Unknown ?/. g.117138367_117159446del g.117498313_117519392del INTRON 1_3, 21,080 BP DEL - CFTR_000014 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR - - - - - 1i_3i NM_000492.3:c.54-5940_273+10250del - VUS r.del? p.(Ser18Argfs*16) - - - - - - - - - - - - - - - - - - -
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 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.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 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.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.1200A>C - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - -
14 Unknown ?/. g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.374G>A - - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.791C>G - - r.(?) p.(Pro264Arg) - - - - - - - - - - - - - - - - - - -
Legend