Screening #0000000021

Individual ID 00000021
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 7
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ALPL alkaline phosphatase, liver/bone/kidney 1 p36.12 1 68 44 2019-06-28 Childhood hypophosphatasia, hypophosphatasia, adult, hypophosphatasia, infantile
BTD biotinidase 3 p25 1 347 148 2019-06-28 deficiency, biotinidase
CBS cystathionine-beta-synthase 21 q22.3 1 998 211 2019-08-17 CBSD, ID
DKC1 dyskeratosis congenita 1, dyskerin X q28 1 138 91 2019-08-05 DKCX;HHS, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 83 14 2019-07-05 MADD
GLB1 galactosidase, beta 1 3 p22.3 1 186 77 2019-09-30 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
SBDS Shwachman-Bodian-Diamond syndrome 7 q11.22 1 36 14 2019-07-05 anemia, Shwachman syndrome
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 293 80 2019-07-28 AATD, COPD



Variants found

7 entries on 1 page. Showing entries 1 - 7.
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.21889760G>A - - - ALPL_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma ALPL, BSCL2, PRKAR1A - - - - - , 8 NM_000478.4:c.455G>A, NM_001122955.3:c.465_468del, NM_002734.4:c.715A>G - pathogenic (recessive), r.(?), r.(715a>g) p.(Arg152His), p.(Thr156Argfs*8), p.(Thr239Ala) - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. g.15686693G>C - - - BTD_000021 - - - - Germline - - - - - Gerard C.P. Schaafsma BTD - - - - - - NM_000060.2:c.1330G>C - - r.(?) p.(Asp444His) - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) ?/. 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.(=) - - - - - - - - - - - - - - - - - - -
7 Unknown ?/. g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SBDS - - - - - - NM_016038.2:c.635T>C - - r.(?) p.(Ile212Thr) - - - - - - - - - - - - - - - - - - -
14 Both (homozygous) ?/. g.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.1200A>C - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) ?/. 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) - - - - - - - - - - - - - - - - - - -
X Both (homozygous) ?/. g.153994206A>G - - - DKC1_000014 - - - - Germline - - - 0 - Gerard C.P. Schaafsma DKC1 - - - - - 4 NM_001363.3:c.196A>G - - r.(?) p.(Thr66Ala) - - - - - - - - - - - - - - - - - - -
Legend