Unique variants in gene GNPDA2

Information The variants shown are described using the NM_138335.2 transcript reference sequence.

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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.*12252_*12255dup likely pathogenic r.(=) p.(=) g.44692845_44692848dup - GUF1(NM_021927.2):c.1447_1450dupGAAT (p.Y484*) - GNPDA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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