Full data view for gene MEG3

Information The variants shown are described using the NR_002766.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA 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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - n.-1123_936-613del r.0? p.0? Maternal (confirmed) - pathogenic g.101291322_101297145del g.100824985_100830808del - - MEG3_000001 5.8 kb deletion PubMed: Beygo 2014 - - Germline yes - - - - DNA SEQ lymphocyte - KOS14 - PubMed: Beygo 2014 2-generation family, PatII3 M yes Turkey - - - - - 2 Thomas Eggermann
+/. _1_3i n.-1123_936-613del r.0? - Maternal (confirmed) - pathogenic g.101291322_101297145del g.100824985_100830808del - - MEG3_000001 5.8 kb deletion PubMed: Beygo 2014 - - Germline yes - - - - DNA arraySNP, MLPA-ms, PCR - - KOS14 - PubMed: Beygo 2014 2-generation family, patII4 F yes Turkey - - - - - 1 Thomas Eggermann
+/. 4i n.-1220_376delins1049+2103_1049+2168 r.? - Maternal (confirmed) - pathogenic g.101291225_101295527delins101299974_101300039 - NT_026437:82290978–82295280del, 82299727–82299792dup - MEG3_000008 4303 bp deletion with 66 bp duplicative insertion (from MEG3 intron 5) PubMed: Kagami 2010, {CV:SCV000190042} - - De novo yes - - - - DNA FISH, SEQ blood - KOS14 - PubMed: Kagami 2010 - F no Ireland - - - - - 1 Masayo Kagami
+?/. _1 n.-218bsrC r.= - Paternal (inferred) - likely pathogenic g.101292227|bsrC - MEG3-DMR CG5 - MEG3_000007 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - - 0.02 (controls 0.26-0.47) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 - M no Japan - - - - - 1 Johan den Dunnen
+?/. _1 n.-218bsrC r.= - Paternal (inferred) - likely pathogenic g.101292227|bsrC - MEG3-DMR CG5 - MEG3_000007 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - - 0.22 (controls 0.26-0.47) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 in vitro fertilization-embryo transfer F no Japan - - - - 7y-gonadotropin-releasing hormone analog (precocious puberty, breast development) 1 Johan den Dunnen
+?/. _1 n.-220bsrC r.= - Paternal (inferred) - likely pathogenic g.101292225|bsrC - MEG3-DMR CG4 - MEG3_000006 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - - 0.06 (controls 0.40-0.74) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 - M no Japan - - - - - 1 Johan den Dunnen
+?/. _1 n.-220bsrC r.= - Paternal (inferred) - likely pathogenic g.101292225|bsrC - MEG3-DMR CG4 - MEG3_000006 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - - 0.28 (controls 0.40-0.74) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 in vitro fertilization-embryo transfer F no Japan - - - - 7y-gonadotropin-releasing hormone analog (precocious puberty, breast development) 1 Johan den Dunnen
+?/. _1 n.-237bsrC r.= - Paternal (inferred) - likely pathogenic g.101292208|bsrC - MEG3-DMR CG3 - MEG3_000005 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - - 0.04 (controls 0.32-0.55) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 - M no Japan - - - - - 1 Johan den Dunnen
+?/. _1 n.-237bsrC r.= - Paternal (inferred) - likely pathogenic g.101292208|bsrC - MEG3-DMR CG3 - MEG3_000005 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - - 0.26 (controls 0.32-0.55) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 in vitro fertilization-embryo transfer F no Japan - - - - 7y-gonadotropin-releasing hormone analog (precocious puberty, breast development) 1 Johan den Dunnen
-?/. _1 n.-245bsrC r.= - Paternal (inferred) - likely benign g.101292200|bsrC - MEG3-DMR CG2 - MEG3_000004 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - - 0.03 (controls 0.52-0.65) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 - M no Japan - - - - - 1 Johan den Dunnen
+?/. _1 n.-245bsrC r.= - Paternal (inferred) - likely pathogenic g.101292200|bsrC - MEG3-DMR CG2 - MEG3_000004 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - - 0.25 (controls 0.52-0.65) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 in vitro fertilization-embryo transfer F no Japan - - - - 7y-gonadotropin-releasing hormone analog (precocious puberty, breast development) 1 Johan den Dunnen
+?/. _1 n.-250bsrC r.= - Paternal (inferred) - likely pathogenic g.101292195|bsrC - MEG3-DMR CG1 - MEG3_000003 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - - 0.03 (controls 0.43-0.56) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 - M no Japan - - - - - 1 Johan den Dunnen
+?/. _1 n.-250bsrC r.= - Paternal (inferred) - likely pathogenic g.101292195|bsrC - MEG3-DMR CG1 - MEG3_000003 hypomethylation DLK1-MEG3 intergenic differentially methylated region PubMed: Kagami 2014 - - Somatic - - - - 0.25 (controls 0.43-0.56) DNA SEQp leukocytes - SRS;RSS - PubMed: Kagami 2014 in vitro fertilization-embryo transfer F no Japan - - - - 7y-gonadotropin-releasing hormone analog (precocious puberty, breast development) 1 Johan den Dunnen
+/. - n.-1_1049+1680{0} r.? - Paternal (confirmed) - pathogenic (dominant) g.101190852_101299551delinsT g.100724515_100833214delinsT - - DLK1_000004 - PubMed: Sabria-Back 2022 - - Germline - - - - extensive methylation analysis DNA arraySNP, MLPA-ms, PCR, SEQ - - TS14 family PubMed: Sabria-Back 2022, 2-generation family, affected mother/child F - Spain - - - - - 2 Johan den Dunnen
+/. - n.-1_1049+1680{0} r.0? - Maternal (confirmed) - pathogenic (dominant) g.101190852_101299551delinsT g.100724515_100833214delinsT - - DLK1_000004 - PubMed: Sabria-Back 2022 - - Germline - - - - extensive methylation analysis DNA arraySNP, MLPA-ms, PCR, SEQ - - KOS14 family PubMed: Sabria-Back 2022 child - - Spain - 00y00m74d - - - 1 Johan den Dunnen
+/. _1_9_ n.1_1845del r.0 - Parent #1 - pathogenic g.101285914_101451066delinsTTCCCC g.100819577_100984729delinsTTCCCC 101285913_101451066delinsTTCCCC - MEG3_000002 de novo 165 kb deletion maternal allele PubMed: Beygo 2014 - - De novo yes - - - - DNA arraySNP, PCR, PCRms, SEQ - - KOS14 - PubMed: Beygo 2014 2-generation family, 1 affected (pat1) M no - - - - - - 1 Johan den Dunnen
?/. - n.1049+1800A>G r.(?) - Unknown - VUS g.101299671A>G - - - chr14_005802 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.1260-5835G>A r.(?) - Unknown - VUS g.101321193G>A - - - chr14_005803 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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