LOVD - Variant listings for COL5A1

About this overview [Show]

Patient data (#0001735)
Patient ID
Disease -
Reference Lucas et al., 2018
Template DNA
Technique WES
Remarks This variant was predicted to be tolerated by SIFT and damaging by PolyPhen2.
Ethnic origin Australian

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity No known pathogenicity
Exon 05
DNA change c.761C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Ser254Leu
RNA change -
Re-site -
Frequency -
DB-ID COL5A1_00240

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 05 c.761C>T - Substitution Missense p.Ser254Leu - - - COL5A1_00240