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NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) AND Stickler syndrome type 1

Significance: Pathogenic
ClinVar: RCV000018899

Variant: NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)

Type: Variant
Allele: NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) 32394
Gene:
Type: single nucleotide variant
Location: Chr12: 47978698 - assembly GRCh38
Chr12: 48372481 - assembly GRCh37
References: dbSNP: 121912866
OMIM: 120140.0005

Condition

Disease: Stickler syndrome type 1

Citation

    In a family with Stickler syndrome (STL1; 108300), Ahmad et al. (1990, 1991) found a single base mutation altering the arginine at amino acid 732 of the triple-helical domain of COL2A1 to a stop codon. The mutation altered a CG dinucleotide and converted the codon CGA to TGA. This mutation was located in exon 40. Ahmad et al. (1991) noted that the mutation produced marked changes in the eye, which contains only small amounts of type II collagen, but had relatively mild effects on the many cartilaginous structures of the body that are rich in the same protein.
PMID:, PMID:1677770