Unique variants in gene HDAC2

Information The variants shown are described using the NM_001527.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
+?/. 1 2 c.83G>A likely pathogenic r.(?) p.(Gly28Asp) g.114281152C>T - - - HDAC2_000003 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.284-9C>A likely benign r.(=) p.(=) g.114277866G>T - HDAC2:c.284-9C>A - HDAC2_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1379-4T>G likely benign r.spl? p.? g.114262933A>C - HDAC2:c.1379-4T>G - HDAC2_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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