LOVD - Variant listings for CHST14

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Patient data (#0001869)
Patient ID P4/III
Disease Musculocontractural EDS
Reference Janecke et al., 2016
Template DNA
Technique SEQ
Remarks The patient has a younger brother (P5/III) who also carries the variants and phenotype. Their mother was heterozygous for the variant, and DNA from the father was unavailable for analysis.
Ethnic origin Hispanic

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 01
DNA change c.977_980dup   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Duplication
Mutation Effect Frameshift
Protein p.Trp327Cysfs*29
RNA change -
Re-site -
Frequency -
DB-ID CHST14_00019

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 (confirmed) 01 c.977_980dup - Duplication Frameshift p.Trp327Cysfs*29 - - - CHST14_00019
+/+? Paternal (inferred) 01 c.977_980dup - Duplication Frameshift p.Trp327Cysfs*29 - - - CHST14_00019