LOVD - Variant listings for B3GALT6

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Patient data (#0001848)
Patient ID P6
Disease SEMDJL
Reference Nakajima et al., 2013
Template DNA
Technique SEQ, WES
Remarks -
Ethnic origin Japanese

Variant data
Allele Parent #2
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 01
DNA change c.899G>C   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Cys300Ser
RNA change -
Re-site -
Frequency -
DB-ID B3GALT6_00031

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
+?/+? Parent #1 01 c.694C>T - Substitution Missense p.Arg232Cys - - - B3GALT6_00029
+?/+? Parent #2 01 c.899G>C - Substitution Missense p.Cys300Ser - - - B3GALT6_00031