Screening #0000000066

Individual ID 00000066
Template DNA
Technique NGS
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 1 113 81 2018-06-03 ID, JBTS-1, JBTS-3
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 269 130 2018-06-03 Wilson
HBB hemoglobin, beta 11 p15.5 1 18928 255 2018-06-03 HBFQTL-1, MLRS, anemia, anemia, Heinz body, anemia, sickle cell (Hb SS disease), thalassemia, beta, thalassemia, beta, dominant inclusion body type
HEXB hexosaminidase B (beta polypeptide) 5 q13.3 1 66 25 2018-06-03 Sandhoff
IDUA iduronidase, alpha-L- 4 p16.3 1 293 139 2017-07-14 ID, MPS-1H, MPS-1HS, Scheie;MPS-1S
MPL myeloproliferative leukemia virus oncogene 1 p34 1 16 9 2018-06-03 CAMT, myelofibrosis, THCYT-2
NHLRC1 NHL repeat containing 1 6 p22.3 1 73 10 2018-06-03 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 305 185 2018-06-03 NPHS, NPHS-1
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 6 p21.2-p12 1 473 431 2018-06-21 ARPKD
PMM2 phosphomannomutase 2 16 p13 1 53 29 2018-06-03 CDG-1A, ID
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 261 75 2018-06-03 AATD, COPD
TTN titin 2 q31 2 5812 3616 2018-05-04 CMD-1G, CMH-9, HMERF, LGMD-2J, TMD, myopathy, early-onset, with fatal cardiomyopathy



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     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
1 Unknown g.43804235_43804236del g.43338564_43338565del - - MPL_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma MPL ?/. - - - - - - NM_005373.2:c.235_236del - - - r.(?) p.(Leu79Glufs*84) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.179485878G>T g.178621151G>T - - TTN_000621 - - - - Unknown - - - 0 - Johan den Dunnen TTN ?/. - - - - - 247 NM_001267550.1:c.45567C>A - - - r.(?) p.(Tyr15189*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Unknown g.996555G>C - - - IDUA_000060 - - - - Germline - - - 0 - Gerard C.P. Schaafsma IDUA ?/. - - - - - 9 NM_000203.3:c.1225G>C - - - r.(?) p.(Gly409Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.51752011G>T g.51887213G>T - - PKHD1_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma PKHD1 ?/. - - - - - - NM_138694.3:c.7029C>A - - - r.(?) p.(Tyr2343*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.135732497C>A g.135411359C>A - - AHI1_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma AHI1 +/. - - - - - 21 NM_001134831.1:c.2950G>T - - - r.(?) p.(Glu984*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.5247153G>T g.5225923G>T - - HBB_002016 - - - - Germline - - - 0 - Gerard C.P. Schaafsma HBB -?/. - - - - - 2i NM_000518.4:c.316-197C>A - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.5247905dup g.5226675dup - - HBB_001186 - - - - Germline - - - 0 - Gerard C.P. Schaafsma HBB +/. - - - - - 2 NM_000518.4:c.217dup - - - r.(?) p.(Ser73Lysfs*2) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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 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.8905018T>C g.8811161T>C - - PMM2_000044 - PubMed: Bell 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma PMM2 ?/+ - - - - - 5 NM_000303.2:c.430T>C - - - r.(?) p.(Phe144Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend