All variants in the GOLGA8K gene

Information The variants shown are described using the XM_003118652.2 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     
./. - c.-226484_*2019838del r.0? p.0? - pathogenic g.30665145_32921879del - - - ARHGAP11A_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. - c.-226484_*2300779del r.0? p.0? - pathogenic g.30384204_32921879del - - - ARHGAP11A_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
./. - c.-123618_*719468dup - - - pathogenic g.31965515_32819013dup g.31673312_32526812dup - - CHRNA7_000001 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. - c.-18594_*1771417del r.0? p.0? - pathogenic g.30913566_32713989del - - - ARHGAP11B_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
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