Screening #0000000094

Individual ID 00000094
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 14
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AHI1 Abelson helper integration site 1 6 q23.2 2 148 101 2019-07-05 ID, JBTS-1, JBTS-3
ARSB arylsulfatase B 5 p11-q13 1 39 26 2019-06-28 MPS-6
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 380 191 2019-07-05 Wilson
BTD biotinidase 3 p25 1 345 146 2019-06-28 deficiency, biotinidase
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 6 q22-q23 1 113 42 2019-07-27 ARHR-2, COLED, GACI-1, NIDDM
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 86 15 2019-07-05 MADD
GCDH glutaryl-CoA dehydrogenase 19 p13.2 1 1087 229 2019-09-19 GA-1
GLB1 galactosidase, beta 1 3 p22.3 1 185 75 2019-09-30 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
INVS inversin 9 q31 1 4 2 2019-06-28 NPHP-2
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 88 55 2019-07-05 ID, Griscelli syndrome, type 1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 192 2019-07-05 NPHS, NPHS-1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 289 83 2019-07-28 AATD, COPD
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 215 143 2019-07-05 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B



Variants found

14 entries on 1 page. Showing entries 1 - 14.
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     
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.(=) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. g.78135241C>T g.78839418C>T - - ARSB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ARSB - - - - - - NM_000046.3:c.1151G>A - - r.(?) p.(Ser384Asn) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. g.132206079C>T g.131884939C>T - - ENPP1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma ENPP1 - - - - - - NM_006208.2:c.2320C>T - VUS r.(?) p.(Arg774Cys) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. g.135778794T>C g.135457656T>C - - AHI1_000004 - - - - Germline - - - 0 - Gerard C.P. Schaafsma AHI1 - - - - - 9 NM_001134831.1:c.989A>G, NM_017651.4:c.989A>G - - r.(?) p.(Asp330Gly) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/. g.103046765G>C - - - INVS_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma INVS - - - - - 13 NM_014425.2:c.1948G>C - - r.(?) p.(Ala650Pro) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. g.6415463G>A - - - SMPD1_000101 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SMPD1 - - - - - - NM_000543.3:c.1522G>A - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/. 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 ?/. g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.710T>C - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - -
15 Unknown ?/. g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A - - - - - - NM_000259.3:c.3736C>T - - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. g.13004306G>A - - - GCDH_000050 - - - - Germline - - - 0 - Gerard C.P. Schaafsma GCDH - - - - - 6 NM_000159.2:c.344G>A - VUS r.(?) p.(Cys115Tyr) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. g.13007126C>T - - - GCDH_000077 - - - - Germline - - - 0 - Gerard C.P. Schaafsma GCDH - - - - - 8 NM_000159.2:c.743C>T - VUS r.(?) p.(Pro248Leu) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. g.36322601T>C g.35831699T>C - - NPHS1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.3230A>G - - r.(?) p.(Asn1077Ser) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. 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