LOVD - Variant listings for COL5A1

About this overview [Show]

Patient data (#0000375)
Patient ID -
Disease -
Reference dbSNP
Template Unknown
Technique Unknown
Remarks The dbSNP entry is rather muddled for this variant.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity No known pathogenicity
Exon 53
DNA change c.4135C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation Effect Missense
Protein p.(Pro1379Ser)
RNA change -
Re-site -
Frequency -
DB-ID COL5A1_00083

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 53 c.4135C>T dbSNP Substitution Missense p.(Pro1379Ser) - - - COL5A1_00083