Screening #0000000090

Individual ID 00000090
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 8
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 638 426 2020-05-24 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
ERCC4 excision repair cross-complementing rodent repair deficiency, complementation group 4 16 p13.3 1 58 44 2020-05-28 FANCQ, ID, XFEPS, XPF
GLB1 galactosidase, beta 1 3 p22.3 1 193 82 2020-05-24 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
HEXB hexosaminidase B (beta polypeptide) 5 q13.3 1 83 41 2020-03-23 Sandhoff
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 396 210 2020-04-22 CMT-2S, DSMA-1
LAMA2 laminin, alpha 2 6 q22-q23 1 2035 639 2020-05-20 ID, LGMDR-23, MDC, MDC-1A
NHLRC1 NHL repeat containing 1 6 p22.3 1 80 16 2020-05-24 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 332 195 2020-05-28 NPHS, NPHS-1



Variants found

8 entries on 1 page. Showing entries 1 - 8.
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     

Protein level     
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.(=) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. - - 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 ?/. - - g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 - - - - - - NM_198586.2:c.332C>T - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - - g.32006387A>T g.32038610A>T - - CYP21A2_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2, HTT - - - - - 1, 2i NM_000500.7:c.188A>T, NM_002111.6:c.348-2680C>G C1 r.(?) p.(His63Leu), p.(=) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - - g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - Gerard C.P. Schaafsma LAMA2 - - - - - 24 NM_000426.3:c.3412G>A - r.(?) p.(Val1138Met) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. - - g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma IGHMBP2 - - - - - 14 NM_002180.2:c.2636C>A - r.(?) p.(Thr879Lys) - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. - - g.14041622C>A g.13947765C>A - - ERCC4_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma ERCC4 - - - - - 11 NM_005236.2:c.2169C>A - r.(?) p.(Cys723*) - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) ?/. - - g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.349G>A - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - -
Legend