LOVD - Variant listings for SP7

About this overview [Show]

2 entries
entries per page

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

dbSNP Hide dbSNP column Descending
Ascending

Type Hide Type column Descending
Ascending

Mutation effect Hide Mutation effect column Descending
Ascending

Protein Hide Protein column Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Re-site Hide Re-site column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending
03 c.946C>T
  (Reported 2 times)
- Substitution Missense p.(Arg316Cys) - - SP7_00002
03 c.1052delA
  (Reported 2 times)
- Deletion Frameshift p.(Glu351Glyfs*19) - - SP7_00001
1 - 2

Legend: [ SP7 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. Genomic Reference Sequence.
Exon: Exon numbering. 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. SP7 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.