All transcript variants in gene NEU1

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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.-3212C>G r.(?) p.(=) - VUS g.31833765G>C g.31865988G>C SLC44A4(NM_001178045.1):c.1144C>G (p.L382V) - NEU1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-2982G>A r.(?) p.(=) - VUS g.31833535C>T g.31865758C>T SLC44A4(NM_001178044.1):c.1388G>A (p.(Gly463Glu)) - NEU1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-2950C>T r.(?) p.(=) - VUS g.31833503G>A g.31865726G>A SLC44A4(NM_001178045.1):c.1318C>T (p.R440W) - NEU1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.263G>C r.(?) p.(Gly88Ala) - likely benign g.31829865C>G g.31862088C>G NEU1(NM_000434.3):c.263G>C (p.(Gly88Ala)) - NEU1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.344del r.(?) p.(Met115Argfs*23) ACMG likely pathogenic g.31829784del g.31862007del - - NEU1_000001 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
+/. - c.625del r.(?) p.(Glu209SerfsTer94) - pathogenic g.31828391del g.31860614del NEU1(NM_000434.3):c.625delG (p.(Glu209SerfsTer94)) - NEU1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.649G>A r.(?) p.(Val217Met) - VUS g.31828365C>T g.31860588C>T NEU1(NM_000434.3):c.649G>A (p.V217M) - NEU1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.679G>A r.(?) p.(Gly227Arg) - likely pathogenic g.31828335C>T g.31860558C>T NEU1(NM_000434.3):c.679G>A (p.G227R) - NEU1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.698G>A r.(?) p.(Ser233Asn) - likely pathogenic g.31828316C>T g.31860539C>T NEU1(NM_000434.3):c.698G>A (p.(Ser233Asn)) - NEU1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.700G>A r.(?) p.(Asp234Asn) ACMG pathogenic g.31828314C>T g.31860537C>T - - NEU1_000002 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
+/. - c.1021C>T r.(?) p.(Arg341Ter) - pathogenic g.31827819G>A g.31860042G>A NEU1(NM_000434.3):c.1021C>T (p.R341*) - NEU1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1060A>G r.(?) p.(Thr354Ala) - likely benign g.31827684T>C g.31859907T>C NEU1(NM_000434.3):c.1060A>G (p.(Thr354Ala)) - NEU1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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