LOVD - Variant listings for COL1A1

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Patient data (#0003597)
Patient ID
Disease OI
Reference Lee et al., 2017
Template DNA
Technique PCR, SEQ, WGS
Remarks The patient is described as having some features of OI and Russell-Silver syndrome.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 47
DNA change c.3380G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
ClinVar -
Type Substitution
Mutation effect Missense
Protein p.(Gly1127Asp)
Legacy change -
RNA change -
Re-site -
DB-ID COL1A1_01082

1 entry in COL1A1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
ClinVar 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
+/+ Unknown 47 c.3380G>A - - Substitution Missense p.(Gly1127Asp) - - - COL1A1_01082