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 96 7 2017-09-01 Wilson
CDH23 cadherin-related 23 10 q22.1 1 26 17 2017-07-31 DFNB-12, USH-1D
HESX1 HESX homeobox 1 3 p14.3 1 8 1 2017-07-31 ID, dysplasia, septo-optic
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 8 p11.1 1 133 54 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 16 14 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 2017-09-01 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     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

Domain     

IDbase Accession Number     

VariO Annotation DNA level     

VariO Annotation protein level     

VariO Annotation RNA level     

Exon     

DNA change (cDNA)     

Haplotype     

Class.     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type     

Conservation     

CpG     

DB CrossRef     

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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - - - HESX1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma HESX1 ?/. - - - - - - - NM_003865.2:c.374A>G - - - r.(?) p.(Asn125Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.51917987G>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 - - - HGSNAT_000023 - - - Germline - - - - - Gerard C.P. Schaafsma HGSNAT ?/. - - - - - - - NM_152419.2:c.1567A>C - - - r.(?) p.(Lys523Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
10 Unknown g.73490271A>G - - - CDH23_000001 - - - Germline - - - - - Gerard C.P. Schaafsma CDH23 ?/. - - - - - - - NM_022124.5:c.3625A>G - - - r.(?) p.(Thr1209Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.103260383T>C - - - PAH_000001 - - - Germline - - - - - Gerard C.P. Schaafsma PAH ?/. - - - - - - - NM_000277.1:c.500A>G - - - r.(?) p.(Asn167Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.52515354A>G - - - ATP7B_000001 - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - - NM_000053.3:c.3419T>C - - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Both (homozygous) g.94847415A>G - - - SERPINA1_000002 - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - - NM_001127701.1:c.710T>C - - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36330277C>G - - - NPHS1_000004 - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - - NM_004646.3:c.2971G>C - - - r.(?) p.(Val991Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend