Unique variants in gene GPX1

Information The variants shown are described using the NM_000581.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.-1958G>T r.(?) p.(=) - VUS g.49397669C>A g.49360236C>A RHOA(NM_001664.3):c.555G>T (p.K185N) - RHOA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-1957A>T r.(?) p.(=) - VUS g.49397668T>A g.49360235T>A RHOA(NM_001664.3):c.556A>T (p.K186*) - RHOA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.33_38del r.? p.? - benign g.49395688_49395693del g.49358255_49358260del GPX1(NM_201397.2):c.33_38delGGCGGC (p.A12_A13del) - GPX1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.36_38del r.? p.? - benign g.49395691_49395693del g.49358258_49358260del GPX1(NM_201397.3):c.36_38delGGC (p.A13del) - GPX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.512C>G r.(?) p.? - VUS g.49394921G>C g.49357488G>C GPX1(NM_000581.2):c.512C>G (p.(Pro171Arg)) - GPX1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.599C>T r.(?) p.? - benign g.49394834G>A g.49357401G>A GPX1(NM_000581.3):c.599C>T (p.P200L) - GPX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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