Screening #0000000028

Individual ID 00000028
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 17
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ALG1 asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) 16 p13.3 1 92 49 2019-08-02 CDG-1K, ID
AMPD1 adenosine monophosphate deaminase 1 1 p13 1 14 9 2019-07-23 MMDD
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 380 191 2019-07-05 Wilson
BTD biotinidase 3 p25 1 345 146 2019-06-28 deficiency, biotinidase
CBS cystathionine-beta-synthase 21 q22.3 1 1001 215 2019-08-17 CBSD, ID
CLN3 ceroid-lipofuscinosis, neuronal 3 16 p12 1 581 115 2019-06-20 CLN, CLN-3
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 636 422 2019-07-05 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
FGG fibrinogen gamma chain 4 q32.1 1 12 7 2018-06-03 afibrinogenemia, congenital, Dysfibrinogenemia, congenital
GALC galactosylceramidase 14 q31 1 134 79 2019-06-28 Krabbe
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
JAK3 Janus kinase 3 19 p13-p12 1 97 82 2019-07-05 immunodeficiency, severe combined, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 192 2019-07-05 NPHS, NPHS-1
RAG2 recombination activating gene 2 11 p13 1 14 13 2018-06-03 CCHIDG, Omenn syndrome, Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
RPGRIP1L RPGRIP1-like 16 q12.2 1 97 78 2018-11-20 COACH, ID, JBTS-7, MKS-5
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

17 entries on 1 page. Showing entries 1 - 17.
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.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.1117T>C - - r.(?), r.(1117u>c) p.(Pro81Leu), p.(Tyr373His) - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. g.15677019G>A - - - BTD_000024 - - - - Germline - - - - - Gerard C.P. Schaafsma BTD - - - - - - NM_000060.2:c.133G>A - - r.(?) p.(Gly45Arg) - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. 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.(=) - - - - - - - - - - - - - - - - - - -
4 Unknown ?/. g.155533035G>C g.154611883G>C - - FGG_000000 - - - - Germline - - - 0 - Gerard C.P. Schaafsma FGG - - - - - - NM_021870.2:c.323C>G - - r.(?) p.(Ala108Gly) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. g.36614227T>A - - - RAG2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma RAG2 - - - - - - NM_000536.2:c.1492A>T - - r.(?) p.(Lys498*) - - - - - - - - - - - - - - - - - - -
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.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma GALC - - - - - 5 NM_000153.3:c.550C>T - - r.(?) p.(Arg184Cys) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. g.5128790C>T g.5078789C>T - - ALG1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma ALG1 - - - - - - NM_019109.4:c.773C>T - - r.(?) p.(Ser258Leu) - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. g.28488957C>A g.28477636C>A INTRON 14, IVS14-1G>T, CHR16:28396458G>T - CLN3_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CLN3 - - - - - - NM_001042432.1:c.1198-1G>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma CLN3 - - - - - - NM_001042432.1:c.461-280_677+382del - - r.(?) p.(Gly154Alafs*29) - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. g.53653005G>C g.53619093G>C - - RPGRIP1L_000012 - - - - Germline - - - 0 - Gerard C.P. Schaafsma RPGRIP1L - - - - - 24 NM_015272.2:c.3548C>G - - r.(?) p.(Ala1183Gly) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. g.17953950G>C g.17843141G>C - - JAK3_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma JAK3 - - - - - - NM_000215.3:c.452C>G - - r.(?) p.(Pro151Arg) - - - - - - - - - - - - - - - - - - -
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 Unknown ?/. g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.349G>A - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - -
Legend