Screening #0000000038

Individual ID 00000038
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 9
Owner name Global Variome, with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ALS2 amyotrophic lateral sclerosis 2 (juvenile) 2 q33-q35 1 139 91 2020-08-06 ALS-2, IAHSP, PLSJ
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 425 213 2020-08-13 Wilson
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 1439 524 2020-08-06 BESC-1, CBAVD, CF, PCTT
DPYD dihydropyrimidine dehydrogenase 1 p22 1 199 58 2020-08-06 DMB-p, DPDD, ID
GLB1 galactosidase, beta 1 3 p22.3 1 216 98 2020-08-06 gangliosidosis, gangliosidosis-I, gangliosidosis-II, gangliosidosis-III, MPS4B
HEXB hexosaminidase B (beta polypeptide) 5 q13.3 1 85 42 2020-08-06 Sandhoff
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1 p36.3 1 124 87 2020-08-06 NTDFS, SCZD, THPH1, homocysteinemia, due to deficiency of MTHFR
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 92 58 2020-08-06 ID, Griscelli syndrome, type 1
NHLRC1 NHL repeat containing 1 6 p22.3 1 84 18 2020-08-06 epilepsy, myoclonic, of Lafora
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 225 147 2020-08-06 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B



Variants found

9 entries on 1 page. Showing entries 1 - 9.
Legend  

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
1 Unknown ?/. - VUS 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 ?/. - VUS g.202591523G>T g.201726800G>T - - ALS2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma ALS2 - - - - - 18 NM_020919.3:c.3046C>A - r.(?) p.(Pro1016Thr) - - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. - VUS 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 ?/. - VUS 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 ?/. - VUS 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 ?/. - VUS g.117292931C>G g.117652877C>G - - CFTR_000004 - - - - Unknown - - - 0 - Global Variome, with Curator vacancy CFTR - - - - - 24 NM_000492.3:c.3909C>G - r.(?) p.(Asn1303Lys) - - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. - VUS g.6415463G>A g.6394233G>A - - SMPD1_000101 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SMPD1 - - - - - - NM_000543.3:c.1522G>A - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - - -
13 Unknown ?/. - VUS g.52511799A>C g.51937663A>C - - ATP7B_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B - - - - - - NM_000053.3:c.3716T>G - r.(?) p.(Val1239Gly) - - - - - - - - - - - - - - - - - - - -
15 Unknown ?/. - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A - - - - - - NM_000259.3:c.3736C>T - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - - -
Legend