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https://databases.lovd.nl/shared/genes/FAM46A

LOVD - Variant listings for FAM46A

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3 entries
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Exon Hide Exon column Descending
Ascending

ClinVar Hide ClinVar column Descending
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DNA change   Descending
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dbSNP Hide dbSNP column Descending
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Type Hide Type column Descending
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Mutation effect Hide Mutation effect column Descending
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RNA change Hide RNA change column Descending
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Re-site Hide Re-site column Descending
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02 - c.380A>G
  (Reported 2 times)
- Substitution Missense p.(His127Arg) - - FAM46A_00002
03 - c.612_613dup
  (Reported 2 times)
- Duplication Frameshift p.(Ser205Tyrfs*13) - - FAM46A_00001
03 - c.692A>G
  (Reported 2 times)
- Substitution Missense p.(Asp231Gly) - - FAM46A_00003
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Legend: [ FAM46A full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: Exon numbering. ClinVar: ClinVar DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. FAM46A DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.