LOVD - Variant listings for COL5A1

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Patient data (#0001796)
Patient ID Patient 61
Disease -
Reference Omoyinmi et al., 2017
Template DNA
Technique CNGP, PCR, SEQ
Remarks The patient is given a probable diagnosis of catastrophic antiphospholipid syndrome.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
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