All variants in the DIAPH3-AS1 gene

Information The variants shown are described using the NR_046539.1 transcript reference sequence.

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

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     
-?/. - n.108+3213A>G r.(?) - - likely benign g.60590205A>G g.60016071A>G DIAPH3(NM_001042517.1):c.701T>C (p.I234T) - DIAPH3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - n.108+3307C>T r.(?) - - benign g.60590299C>T g.60016165C>T DIAPH3(NM_001042517.2):c.627-20G>A, DIAPH3-AS1(NR_046539.2):n.141+3307C>T - DIAPH3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - n.108+3307C>T r.(?) - - benign g.60590299C>T g.60016165C>T DIAPH3(NM_001042517.2):c.627-20G>A, DIAPH3-AS1(NR_046539.2):n.141+3307C>T - DIAPH3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - n.215T>C r.(?) - - VUS g.60616833T>C g.60042699T>C DIAPH3(NM_001042517.1):c.617A>G (p.N206S) - DIAPH3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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