LOVD - Variant listings for COL1A2

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Patient data (#0002995)
Patient ID
Disease OI
Reference Balasubramanian et al., 2015
Template DNA
Technique array CGH, CNGP
Remarks ArrayCGH identified an 8.8 Mb deletion of chromosome 11q24.2q25, involving nucleotide basepairs 126,026,082–134,868,420 (GRCh37 genome assembly) in addition to the COL1A2 variant.
Ethnic origin Pakistani

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 08
DNA change c.371G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation effect Missense
Protein p.(Gly124Asp)
Legacy change Gly34Asp
RNA change -
Re-site -
DB-ID COL1A2_00002

1 entry in COL1A2

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
+/+ Unknown 08 c.371G>A dbSNP Substitution Missense p.(Gly124Asp) Gly34Asp - - COL1A2_00002