LOVD - Variant listings for COL1A1

About this overview [Show]

Patient data (#0002156)
Patient ID AN_001620
Disease Caffey disease
Reference Italy:Bologna
Template DNA
Technique SEQ
Remarks -
Ethnic origin -
Submitter Margherita Maioli

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 42
DNA change c.3040C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation effect Missense
Protein p.(Arg1014Cys)
Legacy change Arg836Cys
RNA change -
Re-site -
DB-ID COL1A1_00242

1 entry in COL1A1

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
DB-ID Descending
Ascending
+/+ Maternal (confirmed) 42 c.3040C>T dbSNP Substitution Missense p.(Arg1014Cys) Arg836Cys - - COL1A1_00242