LOVD - Variant listings for COL5A1

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Patient data (#0001760)
Patient ID
Disease Classical EDS
Reference Wardeh et al., 2018
Template DNA
Technique SEQ, WES
Remarks -
Ethnic origin Afro-Caribbean

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 07
DNA change c.944delC   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect Frameshift
Protein p.Thr315Argfs*243
RNA change -
Re-site -
Frequency -
DB-ID COL5A1_00253

1 entry in COL5A1

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 07 c.944delC - Deletion Frameshift p.Thr315Argfs*243 - - - COL5A1_00253