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.14G>C likely benign r.? p.? g.49395698C>G - RHOA:NM_000581.2:c.14G>C, NM_001664.2:c.*1944G>C, … - GPX1_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.19_24del benign - p.? g.49395688_49395693del - GPX1:c.33_38delGGCGGC (A12_A13del) - GPX1_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.512C>G VUS r.? p.? g.49394921G>C - RHOA:NM_000581.2:c.512C>G, NM_001664.2:c.*2721C>G, … - GPX1_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.580G>A likely benign r.? p.? g.49394853C>T - RHOA:NM_000581.2:c.580G>A, NM_001664.2:c.*2789G>A, … - GPX1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.599C>T benign - p.? g.49394834G>A - GPX1:c.599C>T (P200L) - GPX1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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