Screening #0000000041

Individual ID 00000041
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
ATP7A ATPase, Cu++ transporting, alpha polypeptide X q21.1 2 114 97 2018-11-01 ID, Menkes, atrophy, muscular, spinal, distal, X-linked, type 3, Occipital horn syndrome
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 285 145 2018-12-14 Wilson
DPYD dihydropyrimidine dehydrogenase 1 p22 1 149 32 2019-03-23 DMB-p, DPDD, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 79 10 2019-04-19 MADD
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 332 171 2019-03-03 CMT-2S, DSMA-1
MPL myeloproliferative leukemia virus oncogene 1 p34 1 16 9 2018-11-01 CAMT, myelofibrosis, THCYT-2
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 73 42 2018-11-13 ID, Griscelli syndrome, type 1
NHLRC1 NHL repeat containing 1 6 p22.3 1 73 10 2018-11-16 epilepsy, myoclonic, of Lafora
NPHP4 nephronophthisis 4 1 p36 1 140 104 2018-11-13 NPHP-4, SLSN-4
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 308 186 2019-03-03 NPHS, NPHS-1
PLP1 proteolipid protein 1 X q22 1 119 79 2019-01-30 ID, PMD;HLD-1, SPG-2
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 261 75 2018-11-20 AATD, COPD



Variants found

14 entries on 1 page. Showing entries 1 - 14.
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.5940243G>A - - - NPHP4_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma HTT, NPHP4 -/- - - - - - 2i NM_002111.6:c.348-2680C=, NM_015102.2:c.2542C>T - - r.(?) p.(=), p.(Arg848Trp) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MPL ?/. - - - - - - NM_005373.2:c.340G>A - - r.(?) p.(Val114Met) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - NM_000110.3:c.1627A>G - - r.(?) p.(Ile543Val) - - - - - - - - - - - - - - - - - - - - - - -
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.99366081A>G - 15615T>C (F189S) - CYP3A4_000041 Enzime activity in_vitro: Decrease PubMed: Dai 2001 - rs4987161 In vitro (cloned) - - - 0 - Julia Lopez CYP3A4 +/+ - - - - - 7 NM_017460.5:c.566T>C CYP3A4*17 - r.(?) p.(Phe189Ser) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - NM_000053.3:c.3419T>C - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
14 Both (homozygous) g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.374G>A - - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - - - - - -
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.36322601T>C g.35831699T>C - - NPHS1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.3230A>G - - r.(?) p.(Asn1077Ser) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
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.77266947_77266948insAAGAT - - - ATP7A_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7A ./. - - - - - - NM_000052.4:c.1948_1949insAAGAT, NM_000052.5:c.1948_1949insAAGAT - - r.(?), r.spl? p.(Trp650*), p.? - - - - - - - - - - - - - - - - - - - - - - -
Legend