Unique variants in gene GPX1

Information The variants shown are described using the NM_000581.2 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.-1958G>T VUS r.(?) p.(=) g.49397669C>A - RHOA(NM_001664.3):c.555G>T (p.K185N) - RHOA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-1957A>T VUS r.(?) p.(=) g.49397668T>A - RHOA(NM_001664.3):c.556A>T (p.K186*) - RHOA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.33_38del benign r.? p.? g.49395688_49395693del - GPX1(NM_201397.2):c.33_38delGGCGGC (p.A12_A13del) - GPX1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.512C>G VUS r.(?) p.? g.49394921G>C - GPX1(NM_000581.2):c.512C>G (p.(Pro171Arg)) - GPX1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.599C>T benign r.(?) p.? g.49394834G>A - GPX1(NM_000581.3):c.599C>T (p.P200L) - GPX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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