Unique variants in the HDAC9 gene

Information The variants shown are described using the NM_178425.2 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 1 - c.-4_2685-6938{2} r.? p.? - pathogenic (dominant) g.18476862_18907163dup g.18437239_18867540dup - - HDAC9_000003 evidence of pathogeniticy provided in paper; expression of TWIST1 gene raised PubMed: Romanelli Tavares 2022 - - Germline yes - - - - Maria Rita Passos-Bueno
+/. 1 - c.655C>T r.(?) p.(Arg219Ter) - pathogenic g.18633643C>T g.18594020C>T HDAC9(NM_178423.3):c.646C>T (p.R216*) - HDAC9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.656G>A r.(?) p.(Arg219Gln) - VUS g.18633644G>A g.18594021G>A HDAC9(NM_001321868.1):c.713G>A (p.R238Q) - HDAC9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2698C>G r.(?) p.(Pro900Ala) - VUS g.18914114C>G - HDAC9(NM_001321868.1):c.2623C>G (p.P875A) - HDAC9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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