LOVD - Variant listings for COL3A1

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Patient data (#0001780)
Patient ID Family 604
Disease Cervical artery dissection
Reference Grond-Ginsbach et al., 2017
Template DNA
Technique WES
Remarks The patient has a cousin who also carries the variant and presents with cervical artery dissections. Both mothers of the patients were asymptomatic carriers. The DNA base change was deduced from the Gly324Ser protein change in the paper.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Pathogenic
Exon 15
DNA change c.970G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Gly324Ser
Legacy change Gly157Ser
RNA change -
Re-site -
Frequency -
DB-ID COL3A1_00748

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 15 c.970G>A - Substitution Missense p.Gly324Ser Gly157Ser - - - COL3A1_00748