Unique variants in gene VDAC1

Information The variants shown are described using the NM_003374.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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 - c.-12376706_*9479938dup - - - g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
?/. 1 - c.324-60del - - p.(=) g.133316707del g.133981016del - - VDAC1_000004 - - - - Germline - - - - - Yu Sun
?/. 1 - c.551+76_551+77del - - p.(=) g.133316343_133316344del g.133980652_133980653del - - VDAC1_000003 - - - - Germline - - - - - Yu Sun
?/. 1 - c.552-130C>G - - p.(=) g.133311842G>C g.133976151G>C - - VDAC1_000002 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*601G>T - - p.(=) g.133307861C>A g.133972170C>A - - VDAC1_000001 - - - - Germline - - - - - Yu Sun
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