Screening #0000000058

Individual ID 00000058
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 18
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 6 p22 2 1 1 2016-11-16 ID, SSADHD
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 96 7 2017-09-01 Wilson
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 321 185 2017-06-30 BESC-1, CBAVD, CF, PCTT
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 24 6 2017-09-01 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
GBA glucosidase, beta, acid 1 q22 1 12 9 2017-09-01 PD, Acute neuronopathic Gaucher's disease, Gaucher disease type 3C, Gaucher disease, perinatal lethal, Gaucher's disease, type 1, Lewy body dementia, Subacute neuronopathic Gaucher's disease
HEXB hexosaminidase B (beta polypeptide) 5 q13.3 1 26 4 2017-06-30 Sandhoff
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 65 21 2017-09-01 CMT-2S, DSMA-1
MEFV Mediterranean fever 16 p13.3 1 225 24 2017-08-28 FMF, FMFD
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 31 2 2017-07-25 ID, Griscelli syndrome, type 1
NHLRC1 NHL repeat containing 1 6 p22.3 1 61 1 2017-09-01 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 234 146 2017-09-01 NPHS, NPHS-1
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 6 p21.2-p12 1 391 378 2017-07-31 ARPKD
PMM2 phosphomannomutase 2 16 p13 1 12 6 2017-05-26 CDG-1A, ID
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 239 67 2017-09-01 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 67 33 2017-09-01 ACG-1B, AO-2, DTD, EDM-4
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 39 5 2017-06-30 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B



Variants found

18 entries on 1 page. Showing entries 1 - 18.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

Domain     

IDbase Accession Number     

VariO Annotation DNA level     

VariO Annotation protein level     

VariO Annotation RNA level     

Exon     

DNA change (cDNA)     

Haplotype     

Class.     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type     

Conservation     

CpG     

DB CrossRef     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
1 Unknown g.155205634T>C - - - GBA_000005 - - - Germline - - - - - Gerard C.P. Schaafsma GBA ?/. - - - - - - - NM_000157.3:c.1226A>G - - - r.(?) p.(Asn409Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.155210452_155210453insC - - - GBA_000004 - - - Germline - - - - - Gerard C.P. Schaafsma GBA ?/. - - - - - - - NM_000157.3:c.83_84insG - - - r.(?) p.(Leu29Alafs*18) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.73992881A>G - - - HEXB_000001 - - - Germline - - - - - Gerard C.P. Schaafsma HEXB ?/. - - - - - - - NM_000521.3:c.619A>G - - - r.(?) p.(Ile207Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.149361221A>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 - - - NHLRC1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma HTT, NHLRC1 -/- - - - - - - 2i NM_002111.6:c.348-2680C=, NM_198586.2:c.332C>T - - - r.(?) p.(=), p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.24533938T>C - - - ALDH5A1_006115 - - - Germline - - - 0 - Gerard C.P. Schaafsma ALDH5A1 ?/. - - - - - - , 11 NM_001080.3:c.1606T>C, NM_170740.1:c.1645T>C - - - r.(?) p.(*536Glnext*6), p.(*549Glnext*6) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.32006387A>T - - - CYP21A2_000002 - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - - 1 NM_000500.7:c.188A>T - - - r.(?) p.(His63Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) g.51893107T>C - - - PKHD1_000006 - - - Germline - - - 0 - Gerard C.P. Schaafsma PKHD1 ?/. - - - - - - 30 NM_138694.3:c.3407A>G - - - r.(?) p.(Tyr1136Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.117267812T>G - - - CFTR_000051 - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR ?/. - - - - - - 22 NM_000492.3:c.3705T>G - - - r.(?) p.(Ser1235Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.6415463G>A - - - SMPD1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma SMPD1 ?/. - - - - - - - NM_000543.3:c.1522G>A - - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.68705674C>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 - - - ATP7B_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94844843T>G - - - SERPINA1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.1200A>C - - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94847415A>G - - - SERPINA1_000002 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.710T>C - - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
15 Unknown g.52643564G>A - - - MYO5A_000001 - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A ?/. - - - - - - - NM_000259.3:c.3736C>T - - - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.3304463C>T - - - MEFV_000001 - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV ?/. - - - - - - 2 NM_000243.2:c.605G>A - - - r.(?) p.(Arg202Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.8906914A>C - - - PMM2_000049 - PubMed: Bell 2011 - Germline - - - 0 - Gerard C.P. Schaafsma PMM2 ?/. - - - - - - 7 NM_000303.2:c.590A>C - - - r.(?) p.(Glu197Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.349G>A - - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend