Screening #0000000026

Individual ID 00000026
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 17
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AMPD1 adenosine monophosphate deaminase 1 1 p13 1 8 5 2018-06-03 MMDD
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 284 145 2019-06-10 Wilson
CBS cystathionine-beta-synthase 21 q22.3 1 94 36 2019-03-01 CBSD, ID
CPT1A carnitine palmitoyltransferase 1A (liver) 11 q13.2 1 19 9 2018-11-01 carnitine palmitoyltransferase I deficiency
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 79 10 2019-06-07 MADD
GLB1 galactosidase, beta 1 3 p22.3 1 114 34 2018-11-20 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
GRHPR glyoxylate reductase/hydroxypyruvate reductase 9 q12 1 6 5 2018-11-01 HP-2
HEXB hexosaminidase B (beta polypeptide) 5 q13.3 1 65 25 2018-11-20 Sandhoff
INVS inversin 9 q31 1 34 30 2018-11-01 NPHP-2
MECP2 methyl CpG binding protein 2 (Rett syndrome) X q28 2 4682 820 2019-06-05 AS, AUTSX-3, ID, MRX-13, MRXSL, RTT, encephalopathy, neonatal, severe
MEFV Mediterranean fever 16 p13.3 1 527 284 2019-06-07 FMF, FMFD
NHLRC1 NHL repeat containing 1 6 p22.3 1 73 10 2019-06-07 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 308 186 2019-06-07 NPHS, NPHS-1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1 q21-q22 1 326 185 2019-01-19 CIPA, MTC
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 260 75 2019-06-10 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 92 45 2019-06-07 ACG, ACG-1B, AO-2, DTD, EDM-4



Variants found

17 entries on 1 page. Showing entries 1 - 17.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
1 Unknown g.156848918C>T g.156879126C>T - - NTRK1_000163 - - - - Germline - - - - - Gerard C.P. Schaafsma NTRK1 ?/. - - - - - 15 NM_002529.3:c.1810C>T - - r.(?) p.(His604Tyr) - - - - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000001 - - - - Germline - - - - - 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) - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 ?/. - - - - - 3 NM_000112.3:c.2065A>T - - r.(?) p.(Thr689Ser) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
7 Parent #1 g.99367788C>T - 13908G>A (R130Q) - CYP3A4_000050 Enzime activity in_vitro: Decrease PubMed: Eiselt 2001 - rs72552799 In vitro (cloned) - - - 0 - Julia Lopez CYP3A4 +/+ - - - - - 5 NM_017460.5:c.389G>A CYP3A4*8 - r.(?) p.(Arg130Gln) - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.37424861del g.37424864del - - GRHPR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma GRHPR ?/. - - - - - - NM_012203.1:c.103del - - r.(?) p.(Asp35Thrfs*11) - - - - - - - - - - - - - - - - - - - - - - -
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.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CPT1A ?/. - - - - - - NM_001876.3:c.823G>A - - r.(?) p.(Ala275Thr) - - - - - - - - - - - - - - - - - - - - - - -
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.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.1200A>C - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.374G>A - - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV ?/. - - - - - 10 NM_000243.2:c.2080A>G - - r.(?) p.(Met694Val) - - - - - - - - - - - - - - - - - - - - - - -
16 Both (homozygous) g.3304463C>T g.3254463C>T - - MEFV_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma MEFV ?/. - - - - - 2 NM_000243.2:c.605G>A - - r.(?) p.(Arg202Gln) - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.349G>A - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - - - - -
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 Unknown g.153296094_153296119del g.154030643_154030668del exon 3, c.1160_1185del, P387fs, CHRX:152949313_152949288del - MECP2_000012 - - - - Germline - - - 0 - Gerard C.P. Schaafsma MECP2 +?/. - - - - - 3, 4 NM_001110792.1:c.1196_1221del, NM_004992.3:c.1160_1185del - - r.(?) p.(Pro399Leufs*9), p.(Pro387Leufs*9) - - - - - - - - - - - - - - - - - - - - - - -
Legend