LOVD - Variant listings for COL3A1

About this overview [Show]

Patient data (#0001777)
Patient ID
Disease AAD
Reference Sakai et al., 2011
Template DNA
Technique CNGP, mPCR, PCR, SEQ
Remarks -
Ethnic origin Japanese

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 49
DNA change c.3776C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Ala1259Val
Legacy change -
RNA change -
Re-site -
Frequency -
DB-ID COL3A1_00616

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 49 c.3776C>T - Substitution Missense p.Ala1259Val - - - - COL3A1_00616