Screening #0000000093

Individual ID 00000093
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 7
Owner name Global Variome, with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ATP7A ATPase, Cu++ transporting, alpha polypeptide X q21.1 2 178 140 2020-09-15 ID, Menkes, atrophy, muscular, spinal, distal, X-linked, type 3, Occipital horn syndrome
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 426 214 2020-09-15 Wilson
GLB1 galactosidase, beta 1 3 p22.3 1 221 101 2020-08-30 gangliosidosis, gangliosidosis-I, gangliosidosis-II, gangliosidosis-III, MPS4B
HBA1 hemoglobin, alpha 1 16 p13.3 1 423 381 2020-08-06 anemia, Heinz, thal, thal-alpa, hemoglobin H disease
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 298 81 2020-09-15 AATD, COPD
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 229 147 2020-09-15 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B



Variants found

7 entries on 1 page. Showing entries 1 - 7.
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 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.(=) - - - - - - - - - - - - - - - - - - - -
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.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.94844947C>T g.94378610C>T - - SERPINA1_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.1096G>A - r.(?) p.(Glu366Lys) - - - - - - - - - - - - - - - - - - - -
14 Both (homozygous) ?/. - VUS 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 ?/. - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HBA1, HBA2, HBM, HBQ1, HBZ - - - - - _1_3_ NM_000558.3:c.-37-u25059_*110+d4774del, NM_000517.4:c.-21292_*8695del, NM_001003938.3:c.-14377_*15587del, NM_005331.4:c.-28866_*1187del, NM_005332.2:c.-1289_*27895del - r.(?), r.? p.? - - - - - - - - - - - - - - - - - - - -
X Unknown ?/. - VUS g.77244777_77244781del g.77989281_77989285del EXON 3, C.658_662DELATCTC, I220FS, CHRX:77131432_77131436DELATCTC - ATP7A_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7A - - - - - - NM_000052.4:c.659_663del, NM_000052.5:c.659_663del - r.(?) p.(Ile220Serfs*9) - - - - - - - - - - - - - - - - - - - -
Legend