LOVD - Variant listings for SNCA

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6 entries
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Exon Hide Exon column Descending

DNA change   Descending

RNA change Hide RNA change column Descending

Protein Hide Protein column Descending

Frequency Hide Frequency column Descending

Location Hide Location column Descending
1-6 genomic duplication
  (Reported 13 times)
- - - whole gene
1-6 genomic triplication
  (Reported 3 times)
- - - whole gene
02 c.88G>C - A30P 2 affected, 1 carrier Exon
03 c.136G>A - E46K 5 affected, 3 carrier Exon
3 c.152G>A - p.Gly51Asp - Exon
03 c.157G>A
  (Reported 2 times)
- A53T 2 cases Exon
1 - 6

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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.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Frequency: Frequency if variant is non pathogenic. Location: Variant location at DNA level.