Screening #0000000007

Individual ID 00000007
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 24
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1 p31 1 9 3 2017-09-01 Medium-chain acyl-coenzyme A dehydrogenase deficiency
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 113 19 2017-10-24 Wilson
CDH23 cadherin-related 23 10 q22.1 1 28 18 2017-10-24 DFNB-12, USH-1D
HESX1 HESX homeobox 1 3 p14.3 1 8 1 2017-10-24 ID, dysplasia, septo-optic
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 8 p11.1 1 135 55 2017-08-04 MPS-3C, RP-73
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 234 146 2017-09-01 NPHS, NPHS-1
PAH phenylalanine hydroxylase 12 q22-q24.2 1 26 23 2017-07-31 PKU
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 6 p21.2-p12 1 391 378 2017-07-31 ARPKD
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 239 67 2017-10-24 AATD, COPD



Variants found

24 entries on 1 page. Showing entries 1 - 24.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/Somatic/De novo     

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     

Class.     

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.76199277A>C - - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ACADM ?/. - - - - - - NM_000016.4:c.351A>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.211532802GT[?] - 4003-82TG(n) - CPS1_000018 - - - rs3217217 Germline - - - 0 - Johan den Dunnen CPS1 -/. - - - - - 34i NM_001122633.2:c.4021-108GT[?] - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.211421454_211421455insTTC g.210556730_210556731insTTC 118delCTT - CPS1_000058 - - - rs61509952 Germline - - - 0 - Johan den Dunnen CPS1 -/. - - - - - 3 NM_001122633.2:c.15_16insTTC - - - r.(?) p.(Ile5_Lys6insPhe) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.211456617A>G g.210591893A>G 1010A>G (His337Arg) - CPS1_000026 - - - rs28940283 Germline - - - 0 - Johan den Dunnen CPS1 ?/. - - - - - 11 NM_001122633.2:c.1028A>G - - - r.(?) p.(His343Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.211456637A>G g.210591913A>G 1030A>G (Thr344Ala) - CPS1_000005 - - - rs1047883 Germline - 0.46-0.69 - 0 - Johan den Dunnen CPS1 -/. - - - - - 11 NM_001122633.2:c.1048A>G - - - r.(?) p.(Thr350Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.211456637A>G g.210591913A>G 1030A>G (Thr344Ala) - CPS1_000005 - - - rs1047883 Germline - - - 0 - Johan den Dunnen CPS1 -/. - - - - - 11 NM_001122633.2:c.1048A>G - - - r.(?) p.(Thr350Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.211456637A>T g.210591913A>T 1030A>T (Thr344Ser) - CPS1_000039 - - - rs1047883 Germline - 0.00-0.12 - 0 - Johan den Dunnen CPS1 -/. - - - - - 11 NM_001122633.2:c.1048A>T - - - r.(?) p.(Thr350Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.211456639C>T g.210591915C>T 1032C>T (Thr344Ala ) - CPS1_000004 - - - rs2229589 Germline - - - 0 - Johan den Dunnen CPS1 -/. - - - - - 11 NM_001122633.2:c.1050C>T - - - r.(?) p.(Thr350Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.211473070G>T g.210608346G>T 2193-15G>T - CPS1_000007 - - - rs2287600 Germline - - - 0 - Johan den Dunnen CPS1 -/. - - - - - 19i NM_001122633.2:c.2211-15G>T - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.211473157C>A g.210608433C>A 2265C>A (Ser755Ser) - CPS1_000008 - - - rs41272667 Germline - - - 0 - Johan den Dunnen CPS1 -/. - - - - - 20 NM_001122633.2:c.2283C>A - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.211481257C>G g.210616533C>G 2679C>G (Gly893Gly ) - CPS1_000010 - - - rs2287599 Germline - - - 0 - Johan den Dunnen CPS1 -/. - - - - - 22 NM_001122633.2:c.2697C>G - - - r.(?) p.(Gly899Gly) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.211515058A>T g.210650334A>T 3405-29A>T - CPS1_000014 - - - rs3213784 Germline - - - 0 - Johan den Dunnen CPS1 -/. - - - - - 28i NM_001122633.2:c.3423-29A>T - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.211527722dupT g.210662998dupT 3928-125dupT - CPS1_000016 - - - rs3214427 Germline - - - 0 - Johan den Dunnen CPS1 -/. - - - - - 33i NM_001122633.2:c.3946-125dupT - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.211540507C>A g.210675783C>A 4217C>A (T1406N) - CPS1_000020 - - - rs7422339 Germline - - - 0 - Johan den Dunnen CPS1 -/. - - - - - 37 NM_001122633.2:c.4235C>A - - - r.(?) p.(Thr1412Asn) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.211541721A>G g.210676997A>G 4275-10A>G - CPS1_000021 - - - rs41272673 Germline - - - 0 - Johan den Dunnen CPS1 -/. - - - - - 37i NM_001122633.2:c.4293-10A>G - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Parent #1 g.211541805C>A g.210677081C>A 4349C>A (Thr1450Asn) - CPS1_000028 - - - rs1047891 Germline - - - 0 - Johan den Dunnen CPS1 -/. - - - - - 38 NM_001122633.2:c.4367C>A - - - r.(?) p.(Thr1456Asn) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.57232504T>C g.57198476T>C - - HESX1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HESX1 ?/. - - - - - - NM_003865.2:c.374A>G - - - r.(?) p.(Asn125Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.51917987G>C g.52053189G>C - - PKHD1_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma PKHD1 ?/. - - - - - 21 NM_138694.3:c.2027C>G - - - r.(?) p.(Pro676Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
8 Unknown g.43052839A>C g.43197696A>C - - HGSNAT_000023 - - - - Germline - - - - - Gerard C.P. Schaafsma HGSNAT ?/. - - - - - - NM_152419.2:c.1567A>C - - - r.(?) p.(Lys523Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
10 Unknown g.73490271A>G g.71730514A>G - - CDH23_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CDH23 ?/. - - - - - - NM_022124.5:c.3625A>G - - - r.(?) p.(Thr1209Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.103260383T>C g.102866605T>C - - PAH_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma PAH ?/. - - - - - - NM_000277.1:c.500A>G - - - r.(?) p.(Asn167Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.710T>C - - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36330277C>G g.35839375C>G - - NPHS1_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.2971G>C - - - r.(?) p.(Val991Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend