All transcript variants in gene RFT1

Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
Information The variants shown are described using the NM_052859.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

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     
?/. - c.463G>T VUS r.(?) p.(Ala155Ser) g.53155810C>A - RFT1:NM_052859.3:c.463G>T (Ala155Ser) - RFT1_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.886A>G likely benign r.(?) p.(Ile296Val) g.53139760T>C - RFT1:NM_052859.3:c.886A>G - RFT1_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1588C>A likely benign r.(?) p.(Gln530Lys) g.53125957G>T - RFT1:NM_052859.3:c.1588C>A - RFT1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1623A>G benign r.(=) p.(=) g.53125922T>C - RFT1:c.1623A>G (=) - RFT1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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