LOVD - Variant listings for SNCA

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5 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

Location Hide Location column Descending
Ascending
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
03 c.157G>A
  (Reported 2 times)
- A53T 2 cases Exon
1 - 5

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Legend: [ SNCA 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.
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.