LOVD - Variant listings for CHST14

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Patient data (#0000659)
Patient ID F2-II3
Disease EDS VIB
Reference Miyake et al., 2010
Template DNA
Technique SEQ
Remarks This patient was previously described by Kosho et al., 2005.
Ethnic origin Japanese

Variant data
Allele Maternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
DNA change c.842C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.(Pro281Leu)
RNA change r.(?)
Re-site -
Frequency -
DB-ID CHST14_00002

2 entries in CHST14

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
+/+ Maternal (inferred) 01 c.842C>T - Substitution Missense p.(Pro281Leu) r.(?) - - CHST14_00002
+/+ Paternal (inferred) 01 c.842C>T - Substitution Missense p.(Pro281Leu) r.(?) - - CHST14_00002