LOVD - Variant listings for B3GALT6

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Patient data (#0001853)
Patient ID F1
Disease SEMDJL
Reference Vorster et al., 2014
Template DNA
Technique SEQ
Remarks The patient had an unaffected sibling who only carried the c.16C>T variant.
Ethnic origin Afrikaner

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 01
DNA change c.200C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Pro67Leu
RNA change -
Re-site -
Frequency -
DB-ID B3GALT6_00033

2 entries in B3GALT6

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation Effect Descending
Ascending
Protein Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
+?/+? Unknown 01 c.16C>T - Substitution Missense p.Arg6Trp - - - B3GALT6_00007
+?/+? Unknown 01 c.200C>T - Substitution Missense p.Pro67Leu - - - B3GALT6_00033