Screening #0000027203

Individual ID 00027197
Template DNA
Technique SEQp
Tissue leukocytes
Remarks -
Variants found? 49
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
GNAS GNAS complex locus 20 q13.2-q13.3 5 540 355 2019-07-27 AIMAH-1, ID, MAS;POFD, PAGH-1, PHP-1A, PHP-1B, PHP-1C, POH, PPHP, bleeding time, prolonged, brachydactyly and mental retardation
H19 H19, imprinted maternally expressed transcript (non-protein coding) 11 p15.5 1 6 6 2018-11-03 BWS, WT-1, WT-2
KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 11 p15.5 1 1179 556 2019-09-30 ATFB-3, JLNS-1, LQT-1;RWS, SQT-2
MEG3 maternally expressed 3 (non-protein coding) 14 q32.2 1 14 8 2018-11-03 -
MEST mesoderm specific transcript 7 q32 1 10 9 2018-11-03 -
PLAGL1 pleiomorphic adenoma gene-like 1 6 q24-q25 1 16 9 2018-11-03 TNDM
SNRPN small nuclear ribonucleoprotein polypeptide N 15 q12 1 14 14 2018-11-03 PWS



Variants found

49 entries on 1 page. Showing entries 1 - 49.
Legend  

Chr     

Allele     

Effect     

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     

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     

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 level     
6 Maternal (inferred) +?/. g.144329302|bsr - PLAGL1-DMR CG7 - PLAGL1_000007 normal methylation PLAGL1-DMR PubMed: Kagami 2014 - - Somatic - 0.50 (controls 0.41-0.58) - 0 - Johan den Dunnen PLAGL1 - - - - - 1i NM_001080951.1:c.-615-22991bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
6 Maternal (inferred) +?/. g.144329310|bsr - PLAGL1-DMR CG6 - PLAGL1_000006 normal methylation PLAGL1-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.45 (controls 0.37-0.55) Johan den Dunnen PLAGL1 - - - - - 1i NM_001080951.1:c.-615-22999bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
6 Maternal (inferred) +?/. g.144329315|bsr - PLAGL1-DMR CG5 - PLAGL1_000005 normal methylation PLAGL1-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.47 (controls 0.40-0.58) Johan den Dunnen PLAGL1 - - - - - 1i NM_001080951.1:c.-615-23004bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
6 Maternal (inferred) +?/. g.144329317|bsr - PLAGL1-DMR CG4 - PLAGL1_000004 normal methylation PLAGL1-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.37 (controls 0.31-0.47) Johan den Dunnen PLAGL1 - - - - - 1i NM_001080951.1:c.-615-23006bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
6 Maternal (inferred) +?/. g.144329319|bsr - PLAGL1-DMR CG3 - PLAGL1_000003 normal methylation PLAGL1-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.45 (controls 0.40-0.56) Johan den Dunnen PLAGL1 - - - - - 1i NM_001080951.1:c.-615-23008bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
6 Maternal (inferred) +?/. g.144329330|bsr - PLAGL1-DMR CG2 - PLAGL1_000002 normal methylation PLAGL1-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.47 (controls 0.27-0.51) Johan den Dunnen PLAGL1 - - - - - 1i NM_001080951.1:c.-615-23019bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
6 Maternal (inferred) +?/. g.144329332|bsr - PLAGL1-DMR CG1 - PLAGL1_000001 normal methylation PLAGL1-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.51 (controls 0.31-0.52) Johan den Dunnen PLAGL1 - - - - - 1i NM_001080951.1:c.-615-23021bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
7 Maternal (inferred) +?/. g.130132298|bsrC - PEG1/MEST-DMR CG1 - MEST_000002 normal methylation PEG1/MEST-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.69 (controls 0.56-0.70) Johan den Dunnen MEST - - - - - 1i NM_177524.2:c.-1-2911bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
7 Maternal (inferred) +?/. g.130132305|bsrC - PEG1/MEST-DMR CG2 - MEST_000003 normal methylation PEG1/MEST-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.68 (controls 0.55-0.69) Johan den Dunnen MEST - - - - - 1i NM_177524.2:c.-1-2904bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
7 Maternal (inferred) +?/. g.130132310|bsrC - PEG1/MEST-DMR CG3 - MEST_000004 normal methylation PEG1/MEST-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.66 (controls 0.52-0.68) Johan den Dunnen MEST - - - - - 1i NM_177524.2:c.-1-2899bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
7 Maternal (inferred) +?/. g.130132317|bsrC - PEG1/MEST-DMR CG4 - MEST_000005 normal methylation PEG1/MEST-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.70 (controls 0.42-0.73) Johan den Dunnen MEST - - - - - 1i NM_177524.2:c.-1-2892bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
7 Maternal (inferred) +?/. g.130132319|bsrC - PEG1/MEST-DMR CG5 - MEST_000006 normal methylation PEG1/MEST-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.65 (controls 0.47-0.66) Johan den Dunnen MEST - - - - - 1i NM_177524.2:c.-1-2890bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
7 Maternal (inferred) +?/. g.130132323|bsrC - PEG1/MEST-DMR CG6 - MEST_000007 normal methylation PEG1/MEST-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.72 (controls 0.54-0.70) Johan den Dunnen MEST - - - - - 1i NM_177524.2:c.-1-2886bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
11 Paternal (inferred) +?/. g.2023852|bsr - H19-DMR CG4 - H19_000004 normal methylation H19-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.49 (controls 0.36-0.55) Johan den Dunnen H19 - - - - - _1 NR_002196.1:n.-4787bsrC - - r.= - - - - - - - - - - - - - - - - - - - -
11 Paternal (inferred) +?/. g.2023854|bsr - H19-DMR CG3 - H19_000003 normal methylation H19-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.49 (controls 0.36-0.57) Johan den Dunnen H19 - - - - - _1 NR_002196.1:n.-4789bsrC - - r.= - - - - - - - - - - - - - - - - - - - -
11 Paternal (inferred) +?/. g.2023856|bsr - H19-DMR CG2 - H19_000002 normal methylation H19-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.51 (controls 0.39-0.64) Johan den Dunnen H19 - - - - - _1 NR_002196.1:n.-4791bsrC - - r.= - - - - - - - - - - - - - - - - - - - -
11 Paternal (inferred) +?/. g.2023866|bsr - H19-DMR CG1 - H19_000001 normal methylation H19-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.51 (controls 0.37-0.60) Johan den Dunnen H19 - - - - - _1 NR_002196.1:n.-4801bsrC - - r.= - - - - - - - - - - - - - - - - - - - -
11 Paternal (inferred) +?/. g.2720411||bsrC - KvDMR CG1 - KCNQ1_000345 normal methylation Kv-DMR (ICR2) PubMed: Kagami 2014 - - Somatic - - - 0 0.49 (controls 0.49-0.66) Johan den Dunnen KCNQ1 - - - - - 11i NM_000218.2:c.1514+37100|bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
11 Paternal (inferred) +?/. g.2720418||bsrC - KvDMR CG2 - KCNQ1_000346 normal methylation Kv-DMR (ICR2) PubMed: Kagami 2014 - - Somatic - - - 0 0.52 (controls 0.52-0.68) Johan den Dunnen KCNQ1 - - - - - 11i NM_000218.2:c.1514+37107|bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
11 Paternal (inferred) +?/. g.2720430||bsrC - KvDMR CG3 - KCNQ1_000347 normal methylation Kv-DMR (ICR2) PubMed: Kagami 2014 - - Somatic - - - 0 0.44 (controls 0.41-0.54) Johan den Dunnen KCNQ1 - - - - - 11i NM_000218.2:c.1514+37119|bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
11 Paternal (inferred) +?/. g.2720432||bsrC - KvDMR CG4 - KCNQ1_000348 normal methylation Kv-DMR (ICR2) PubMed: Kagami 2014 - - Somatic - - - 0 0.46 (controls 0.42-0.55) Johan den Dunnen KCNQ1 - - - - - 11i NM_000218.2:c.1514+37121|bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
11 Paternal (inferred) +?/. g.2720444||bsrC - KvDMR CG5 - KCNQ1_000349 normal methylation Kv-DMR (ICR2) PubMed: Kagami 2014 - - Somatic - - - 0 0.55 (controls 0.55-0.72) Johan den Dunnen KCNQ1 - - - - - 11i NM_000218.2:c.1514+37133|bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
11 Paternal (inferred) +?/. g.2720451||bsrC - KvDMR CG6 - KCNQ1_000350 normal methylation Kv-DMR (ICR2) PubMed: Kagami 2014 - - Somatic - - - 0 0.52 (controls 0.55-0.71) Johan den Dunnen KCNQ1 - - - - - 11i NM_000218.2:c.1514+37140|bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
14 Paternal (inferred) +?/. g.101275705|bsrC - IG-DMR CG1 - chr14_000123 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Germline - - - 0 0.22 (controls 0.49-0.68) Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Paternal (inferred) +?/. g.101275707|bsrC - IG-DMR CG2 - chr14_000124 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - 0 0.18 (controls 0.40-0.62) Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Paternal (inferred) +?/. g.101275712|bsrC - IG-DMR CG3 - chr14_000125 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - 0 0.40 (controls 0.54-0.78) Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Paternal (inferred) +?/. g.101275723|bsrC - IG-DMR CG4 - chr14_000126 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - 0 0.13 (controls 0.43-0.64) Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Paternal (inferred) +?/. g.101292195|bsrC - MEG3-DMR CG1 - MEG3_000003 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - 0 0.03 (controls 0.43-0.56) Johan den Dunnen MEG3 - - - - - _1 NR_002766.2:n.-250bsrC - - r.= - - - - - - - - - - - - - - - - - - - -
14 Paternal (inferred) -?/. g.101292200|bsrC - MEG3-DMR CG2 - MEG3_000004 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - 0 0.03 (controls 0.52-0.65) Johan den Dunnen MEG3 - - - - - _1 NR_002766.2:n.-245bsrC - - r.= - - - - - - - - - - - - - - - - - - - -
14 Paternal (inferred) +?/. g.101292208|bsrC - MEG3-DMR CG3 - MEG3_000005 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - 0 0.04 (controls 0.32-0.55) Johan den Dunnen MEG3 - - - - - _1 NR_002766.2:n.-237bsrC - - r.= - - - - - - - - - - - - - - - - - - - -
14 Paternal (inferred) +?/. g.101292225|bsrC - MEG3-DMR CG4 - MEG3_000006 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - 0 0.06 (controls 0.40-0.74) Johan den Dunnen MEG3 - - - - - _1 NR_002766.2:n.-220bsrC - - r.= - - - - - - - - - - - - - - - - - - - -
14 Paternal (inferred) +?/. g.101292227|bsrC - MEG3-DMR CG5 - MEG3_000007 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - 0 0.02 (controls 0.26-0.47) Johan den Dunnen MEG3 - - - - - _1 NR_002766.2:n.-218bsrC - - r.= - - - - - - - - - - - - - - - - - - - -
15 Maternal (inferred) +?/. g.25200145|bsrC - SNRPN-DMR CG1 - SNRPN_000001 normal methylation SNRPN-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.39 (controls 0.36-0.47) Johan den Dunnen SNRPN - - - - - 4i NM_022807.2:c.-390-7116bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
15 Maternal (inferred) +?/. g.25200149|bsrC - SNRPN-DMR CG2 - SNRPN_000002 normal methylation SNRPN-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.38 (controls 0.36-0.48) Johan den Dunnen SNRPN - - - - - 4i NM_022807.2:c.-390-7112bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
15 Maternal (inferred) +?/. g.25200152|bsrC - SNRPN-DMR CG3 - SNRPN_000003 normal methylation SNRPN-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.40 (controls 0.36-0.50) Johan den Dunnen SNRPN - - - - - 4i NM_022807.2:c.-390-7109bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
15 Maternal (inferred) +?/. g.25200165|bsrC - SNRPN-DMR CG4 - SNRPN_000004 normal methylation SNRPN-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.39 (controls 0.37-0.48) Johan den Dunnen SNRPN - - - - - 4i NM_022807.2:c.-390-7096bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
15 Maternal (inferred) +?/. g.25200182|bsrC - SNRPN-DMR CG5 - SNRPN_000005 normal methylation SNRPN-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.18 (controls 0.40-0.62) Johan den Dunnen SNRPN - - - - - 4i NM_022807.2:c.-390-7079bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
15 Maternal (inferred) +?/. g.25200192|bsrC - SNRPN-DMR CG6 - SNRPN_000006 normal methylation SNRPN-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.40 (controls 0.36-0.47) Johan den Dunnen SNRPN - - - - - 4i NM_022807.2:c.-390-7069bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
20 Unknown +?/. g.57464773|bsrC - GNAS-DMR CG1 - GNAS_000220 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.45 (controls 0.37-0.47) Johan den Dunnen GNAS - - - - - _1 NM_001077488.2:c.-2009bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
20 Unknown +?/. g.57464780|bsrC - GNAS-DMR CG2 - GNAS_000221 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.42 (controls 0.38-0.47) Johan den Dunnen GNAS - - - - - _1 NM_001077488.2:c.-2002bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
20 Unknown +?/. g.57464788|bsrC - GNAS-DMR CG3 - GNAS_000222 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.43 (controls 0.37-0.46) Johan den Dunnen GNAS - - - - - _1 NM_001077488.2:c.-1994bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
20 Unknown +?/. g.57464790|bsrC - GNAS-DMR CG4 - GNAS_000223 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.38 (controls 0.31-0.41) Johan den Dunnen GNAS - - - - - _1 NM_001077488.2:c.-1992bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
20 Unknown +?/. g.57464795|bsrC - GNAS-DMR CG5 - GNAS_000224 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.42 (controls 0.36-0.46) Johan den Dunnen GNAS - - - - - _1 NM_001077488.2:c.-1987bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
20 Unknown +?/. g.57464797|bsrC - GNAS-DMR CG6 - GNAS_000225 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.35 (controls 0.30-0.38) Johan den Dunnen GNAS - - - - - _1 NM_001077488.2:c.-1985bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
20 Unknown +?/. g.57464803|bsrC - GNAS-DMR CG7 - GNAS_000226 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.42 (controls 0.38-0.49) Johan den Dunnen GNAS - - - - - _1 NM_001077488.2:c.-1979bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
20 Unknown +?/. g.57464811|bsrC - GNAS-DMR CG8 - GNAS_000227 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.35 (controls 0.30-0.37) Johan den Dunnen GNAS - - - - - _1 NM_001077488.2:c.-1971bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
20 Unknown +?/. g.57464813|bsrC - GNAS-DMR CG9 - GNAS_000228 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.39 (controls 0.32-0.42) Johan den Dunnen GNAS - - - - - _1 NM_001077488.2:c.-1969bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
20 Unknown +?/. g.57464816|bsrC - GNAS-DMR CG10 - GNAS_000229 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.40 (controls 0.35-0.44) Johan den Dunnen GNAS - - - - - _1 NM_001077488.2:c.-1966bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
20 Unknown +?/. g.57464823|bsrC - GNAS-DMR CG11 - GNAS_000230 normal methylation GNAS-DMR PubMed: Kagami 2014 - - Somatic - - - 0 0.47 (controls 0.42-0.50) Johan den Dunnen GNAS - - - - - _1 NM_001077488.2:c.-1959bsrC - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
Legend