Full data view for gene EHMT1

Information The variants shown are described using the NM_024757.4 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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     
+/. _1_27_ c.-37_*1174{0} r.0 p.0 Unknown - pathogenic g.(140484665_140500096)_(141019076_?)del - - - EHMT1_000000 deletion incl. ARRDC1, C9ORF37, EHMT1, CACNA1B, AK128414, XM_932717 and AK092558 (not deleted ZMYND19-ex1) PubMed: Kleefstra 2006, PubMed: Kleefstra 2006 - - Unknown - 1/23 cases - - - DNA MLPA, PCR - - KLEFS - PubMed: Kleefstra 2006, PubMed: Kleefstra 2006 - - - (Netherlands) - - - - - 1 Johan den Dunnen
+/. _1_27_ c.-37_*1174{0} r.0 p.0 Unknown - pathogenic g.(140484665_140500096)_(140811883_140852139)del - - - EHMT1_000000 380kb deletion incl. ARRDC1, C9ORF37, EHMT1 and AK128414 (not deleted ZMYND19-ex1, CACNA1B-ex11) PubMed: Kleefstra 2006, PubMed: Kleefstra 2006 - - Unknown - 1/23 cases - - - DNA FISH, MLPA, PCR - - KLEFS - PubMed: Kleefstra 2006, PubMed: Kleefstra 2006 - - - (Netherlands) - - - - - 1 Johan den Dunnen
+/. _1_27_ c.-37_*1174{0} r.0 p.0 Unknown - pathogenic g.(139821000_140447000)_(pter)del - - - EHMT1_000000 deletion exceeding size critical region 9q subtelomeric deletion syndrome defined elsewhere, breakpoint between TRAF2 and MRPL41 towards telemore PubMed: Kleefstra 2006, PubMed: Kleefstra 2006 - - Unknown - 1/23 cases - - - DNA FISH, MLPA, PCR - - KLEFS - PubMed: Kleefstra 2006, PubMed: Kleefstra 2006 - - - (Netherlands) - - - - - 1 Johan den Dunnen
+/. _1_27_ c.-37_*1174{0} r.0 p.0 Unknown - pathogenic g.(?_137970000)_(141020000_141040000)del - - - EHMT1_000000 3.1Mb deletion from OLFM1 to CACNA1B PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - - Unknown - - - - - DNA MLPA - - KLEFS - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - M - - - - - - - 1 Johan den Dunnen
+/. _1_27_ c.-37_*1174{0} r.0 p.0 Unknown - pathogenic g.(138015000_139780000)_(140772000_141019000)del - - - EHMT1_000000 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - - Unknown - - - - - DNA MLPA - - KLEFS - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - F - - - - - - - 1 Johan den Dunnen
+/. _1_27_ c.-37_*1174{0} r.0 p.0 Unknown - pathogenic g.(140485000_140512500)_(140731000_140770000)del - - - EHMT1_000000 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - - Unknown - - - - - DNA MLPA - - KLEFS - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - F - - - - - - - 1 Johan den Dunnen
+/. _1_27_ c.-37_*1174{0} r.0 p.0 Unknown - pathogenic g.(138015000_139780000)_(140731000_140770000)del - - - EHMT1_000000 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - - Unknown - - - - - DNA MLPA - - KLEFS - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - F - - - - - - - 1 Johan den Dunnen
+/. _1_27_ c.-37_*1174{0} r.0 p.0 Unknown - pathogenic g.(140450000_140476000)_(140770000_140850000)del - - - EHMT1_000000 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - - Unknown - - - - - DNA MLPA - - KLEFS - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - M - - - - - - - 1 Johan den Dunnen
+/. _1_9 c.? r.0 p.0 Unknown - pathogenic g.(140450000_140476000)_(140512500_140669560)del - - - EHMT1_000000 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - - Unknown - - - - - DNA arraySNP - - KLEFS - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - M - - - - - - - 1 Johan den Dunnen
+/. 11_25 c.(1501+1_1648-1)_(3540+1_?)del r.? p.? Unknown - pathogenic g.(140652464_140669560)_(140712590_147310000)del - - - EHMT1_000000 60kb deletion exons 11-25 (ex 9 normal) PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - - Unknown - - - - - DNA MLPA - - KLEFS - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - M - - - - - - - 1 Johan den Dunnen
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