All transcript variants in gene NEU1

Information The variants shown are described using the NM_000434.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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.-2982G>A VUS r.(?) p.(=) g.31833535C>T - SLC44A4(NM_001178044.1):c.1388G>A (p.(Gly463Glu)) - NEU1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.263G>C likely benign r.(?) p.(Gly88Ala) g.31829865C>G - NEU1(NM_000434.3):c.263G>C (p.(Gly88Ala)) - NEU1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.344del ACMG: 4 r.(?) p.(Met115Argfs*23) g.31829784del g.31862007del - - NEU1_000001 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
+/. - c.625del pathogenic r.(?) p.(Glu209Serfs*94) g.31828391del - NEU1(NM_000434.3):c.625delG (p.(Glu209SerfsTer94)) - NEU1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.679G>A likely pathogenic r.(?) p.(Gly227Arg) g.31828335C>T - NEU1(NM_000434.3):c.679G>A (p.G227R) - NEU1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.698G>A likely pathogenic r.(?) p.(Ser233Asn) g.31828316C>T - NEU1(NM_000434.3):c.698G>A (p.(Ser233Asn)) - NEU1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.700G>A ACMG: 5 r.(?) p.(Asp234Asn) g.31828314C>T g.31860537C>T - - NEU1_000002 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
+/. - c.1021C>T pathogenic r.(?) p.(Arg341*) g.31827819G>A - NEU1(NM_000434.3):c.1021C>T (p.R341*) - NEU1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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