LOVD - Variant listings for B4GALT7

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4 entries
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Exon Hide Exon column Descending

DNA change   Descending

dbSNP Hide dbSNP column Descending

Type Hide Type column Descending

Mutation Effect Hide Mutation Effect column Descending

Protein Hide Protein column Descending

RNA change Hide RNA change column Descending

Re-site Hide Re-site column Descending

Frequency Hide Frequency column Descending

DB-ID Hide DB-ID column Descending
02 c.122T>C - Substitution Missense p.(Leu41Pro) - - - B4GALT7_00004
03 c.557C>A - Substitution Missense p.(Ala186Asp) - - - B4GALT7_00001
03 c.617T>C - Substitution Missense p.(Leu206Pro) - - - B4GALT7_00002
05 c.808C>T
  (Reported 3 times)
dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003
1 - 4

Legend: [ B4GALT7 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. Frequency: Frequency if variant is non pathogenic. B4GALT7 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.