All variants in the VENTX gene

Information The variants shown are described using the NM_014468.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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     
./. - c.-11900608_*327125dup - - - pathogenic g.123150811_135380935dup - - - ACADSB_000015 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/. - c.284G>A r.(?) p.(Arg95His) - VUS g.135053222G>A - NM_014468:c.G284A (R95H) - VENTX_000010 - PubMed: Hamdan 2017 - - De novo - - - - - Johan den Dunnen
?/. - c.*211_*212insATGT r.(=) p.(=) - VUS g.135054021_135054022insATGT g.133240517_133240518insATGT - - VENTX_000009 - - - - Germline - - - - - Yu Sun
?/. - c.*341G>A r.(=) p.(=) - VUS g.135054151G>A g.133240647G>A - - VENTX_000008 - - - - Germline - - - - - Yu Sun
?/. - c.*371G>A r.(=) p.(=) - VUS g.135054181G>A g.133240677G>A - - VENTX_000006 - - - - Germline - - - - - Yu Sun
?/. - c.*713G>A r.(=) p.(=) - VUS g.135054523G>A g.133241019G>A - - VENTX_000007 - - - - Germline - - - - - Yu Sun
?/. - c.*1046G>C - p.(=) - VUS g.135054856G>C - - - VENTX_000001 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
?/. - c.*1046G>C - p.(=) - VUS g.135054856G>C - - - VENTX_000001 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
?/. - c.*1094T>C - p.(=) - VUS g.135054904T>C - - - VENTX_000003 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
?/. - c.*1291G>A r.(=) p.(=) - VUS g.135055101G>A g.133241597G>A - - VENTX_000004 - - - - Germline - - - - - Yu Sun
?/. - c.*1441G>A r.(=) p.(=) - VUS g.135055251G>A g.133241747G>A - - VENTX_000005 - - - - Germline - - - - - Yu Sun
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