Screening #0000000081

Individual ID 00000081
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 11
Owner name Global Variome, with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 9 q34 1 104 77 2020-08-06 TTP
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 425 213 2020-08-13 Wilson
CDH23 cadherin-related 23 10 q22.1 1 2347 801 2020-08-06 DFN, DFNB, DFNB-12, USH, USH-1, USH-1D
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 85 16 2020-08-06 MADD
FKTN fukutin 9 q31-q33 1 346 139 2020-08-06 CMD-1X, ID, LGMD-2, LGMD-2M;MDDGC-4, MDDGA-4;MEB;WWS, MDDGB-4
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
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 336 198 2020-08-06 NPHS, NPHS-1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 297 81 2020-08-06 AATD, COPD
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

11 entries on 1 page. Showing entries 1 - 11.
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     
3 Both (homozygous) ?/. - 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) - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/. - VUS g.108366499G>A g.105604218G>A - - FKTN_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma FKTN - - - - - 6 NM_001079802.1:c.373G>A - r.(?) p.(Gly125Ser) - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/. - VUS g.136302010C>T g.133436890C>T - - ADAMTS13_000045 - - - - Germline - - - - - Gerard C.P. Schaafsma ADAMTS13 - - - - - - NM_139025.3:c.1370C>T - r.(?) p.(Pro457Leu) - - - - - - - - - - - - - - - - - - - -
10 Unknown ?/. - VUS g.73377112G>A g.71617355G>A - - CDH23_000039 - - - - Germline - - - - - Gerard C.P. Schaafsma CDH23 - - - - - - NM_022124.5:c.1096G>A - r.(?) p.(Ala366Thr) - - - - - - - - - - - - - - - - - - - -
10 Unknown ?/. - VUS g.73472494A>G g.71712737A>G - - CDH23_000034 - - - - Germline - - - - - Gerard C.P. Schaafsma C10orf105, CDH23 - - - - - - NM_001164375.2:c.*3199T>C, NM_022124.5:c.3293A>G - r.(=), r.(?) p.(=), p.(Asn1098Ser) - - - - - - - - - - - - - - - - - - - -
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 Both (homozygous) ?/. - VUS 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 ?/. - VUS g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.710T>C - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. - VUS 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) ?/. - VUS 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