Full data view for gene HDAC2

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

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 2 c.83G>A likely pathogenic r.(?) p.(Gly28Asp) Unknown g.114281152C>T - - - HDAC2_000003 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - 1256 gene panel ID 27620904-Pat35 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - 0 - - 1 Johan den Dunnen
-?/. - c.284-9C>A likely benign r.(=) p.(=) Unknown g.114277866G>T - HDAC2(NM_001527.3):c.284-9C>A - HDAC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.290T>G VUS r.(?) p.(Val97Gly) Unknown g.114277851A>C - HDAC2(NM_001527.3):c.290T>G (p.V97G) - HDAC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1379-4T>G likely benign r.spl? p.? Unknown g.114262933A>C - HDAC2(NM_001527.3):c.1379-4T>G - HDAC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend