Unique variants in the OR8K3 gene

Information The variants shown are described using the NM_001005202.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.578A>G r.(?) p.(His193Arg) - likely benign g.56086360A>G - OR8K3(NM_001005202.1):c.578A>G (p.H193R) - OR8K3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.778C>T r.(?) p.(Gln260*) - pathogenic g.56086560C>T g.56319084C>T - - OR8K3_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
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