LOVD - Variant listings for COL3A1

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Patient data (#0001795)
Patient ID Patient 47
Disease -
Reference Omoyinmi et al., 2017
Template DNA
Technique CNGP, PCR, SEQ
Remarks Patient received a probably diagnosis of unclassified familial granulomatous AID. They are a sibling of Patient 48, and also carry a number of other variants related to vasculitis and inflammation.
Ethnic origin Black African

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 26
DNA change c.1804C>A   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation Effect Missense
Protein p.Pro602Thr
Legacy change Pro435Thr
RNA change -
Re-site -
Frequency -
DB-ID COL3A1_00197

1 entry in COL3A1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation Effect Descending
Ascending
Protein Descending
Ascending
Legacy change Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
-/- Unknown 26 c.1804C>A dbSNP Substitution Missense p.Pro602Thr Pro435Thr - - - COL3A1_00197